Copy Number Variants / 13q12.11

13q12.11

Case population data
Control population data
Type
Deletion-Duplication
Average Length
56088
Range
19119855-19430968
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
18
Populations
24 (18 case / 6 control)
Individuals
363 (218 case / 145 control)
Summary

Summary statement in development

Reports related to 13q12.11 (18 Reports)
# Type Title Author, Year
1 Minor Clinical genetic testing for patients with autism spectrum disorders. Shen Y , et al. (2010)
2 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
3 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
4 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
5 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
6 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
7 Minor Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
8 Minor Identification of candidate intergenic risk loci in autism spectrum disorder. Walker S and Scherer SW (2013)
9 Minor Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
10 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
11 Minor Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Sajan SA , et al. (2013)
12 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
13 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
14 Major Frequency and Complexity of De Novo Structural Mutation in Autism. Brandler WM , et al. (2016)
15 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
16 Minor Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou... Xu Q , et al. (2016)
17 Minor Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. Mosca SJ , et al. (2016)
18 Minor Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Pfundt R , et al. (2016)
Show all Case Details Show all Cohort Details

13q12.11

Description:

Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.

Diagnosis:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).

Yin CL , et al. (2016)
Cohort Size: 335

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 108897

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

ASD

Levy D , et al. (2011)
Cohort Size: 858

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 230917

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).

Diagnosis:

ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)

Shen Y , et al. (2010)
Cohort Size: 848

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 311000

Deletion: 2
Duplication: 0

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 83
Female: 17
Unknown: -
CNV Size: 8726

Deletion: 0
Duplication: 4

Total CNV: 4
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

Krumm N , et al. (2015)
Cohort Size: 2377

Age Min: -
Age Max: -
Average: -

Male: 63
Female: 37
Unknown: -
CNV Size: 500497

Deletion: 1
Duplication: 139

Total CNV: 140
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)

Diagnosis:

All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.

Mosca SJ , et al. (2016)
Cohort Size: 82

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 113922

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting

Diagnosis:

Neurodevelopmental disorders

Pfundt R , et al. (2016)
Cohort Size: 1215

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 481435

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS

Prasad A , et al. (2013)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 155427

Deletion: 3
Duplication: 1

Total CNV: 4
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports

Diagnosis:

Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.

Walker S and Scherer SW (2013)
Cohort Size: 1491

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 67332

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 ± 1.5 (mean verbal IQ, 81.9 ± 1.7; mean non-verbal IQ, 88.4 ± 1.4)

Sanders SJ , et al. (2011)
Cohort Size: 1124

Age Min: -
Age Max: -
Average: -

Male: 66
Female: 34
Unknown: -
CNV Size: 311113

Deletion: 5
Duplication: 29

Total CNV: 34
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)

Diagnosis:

Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.

Brandler WM , et al. (2016)
Cohort Size: 71

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 3557

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 477603

Deletion: 6
Duplication: 5

Total CNV: 11
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)

Diagnosis:

Cases diagnosed with ASD

Poultney CS , et al. (2013)
Cohort Size: 299

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 48297

Deletion: 1
Duplication: 2

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014

Diagnosis:

66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).

Xu Q , et al. (2016)
Cohort Size: 115

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 307000

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.

Diagnosis:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Girirajan S , et al. (2013)
Cohort Size: 2588

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 479196

Deletion: 3
Duplication: 3

Total CNV: 6
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)

Diagnosis:

Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol

Girirajan S , et al. (2013)
Cohort Size: 243

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 137689

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2737371

Deletion: 4
Duplication: 1

Total CNV: 5
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes

Diagnosis:

Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients

Sajan SA , et al. (2013)
Cohort Size: 487

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 206850

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

yin_16_ASD_discovery_cases-case444

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 20545714
CNV End: 20654610
CNV Size: 108897
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: ZMYM2, BC044596

levy_11_ASD_discovery_cases-11267.p1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 19701123
CNV End: 19932039
CNV Size: 230917
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg18
Gene Content: CRYL1, GJB6

pfundt_16_NDD_discovery_cases-case41

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: GJB2 GJB6 deletion

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 20659961
CNV End: 21141396
CNV Size: 481435
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: Not reported (likely GRCh37/hg19)
Gene Content: -

shen_10_ASD_discovery_cases-ASD-09-054

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 19698883
CNV End: 20002569
CNV Size: 304000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: UCSC Genome Browser hg18
Gene Content: GJB6, CRYL1, MIR4499

shen_10_ASD_discovery_cases-ASD-09-055

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 19691189
CNV End: 19860032
CNV Size: 311000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: UCSC Genome Browser hg18
Gene Content: -

xu_16_ASD/DD/ID_discovery_cases-case29

Clinical Profile:

Primary diagnosis of developmental delay based on DQ scores.

Cognitive Profile:

-

Xu Q , et al. (2016)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19695316
CNV End: 20002412
CNV Size: 307000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg18
Gene Content: GJB6, CRYL1

mosca_16_DCD_discovery_cases-case115204

Clinical Profile:

Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.

Cognitive Profile:

-

Mosca SJ , et al. (2016)
Primary Diagnosis: DCD (with or without ADHD and/or RD)

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 20153516
CNV End: 20267437
CNV Size: 113922
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: -

prasad_12_ASD_discovery_cases-case68609

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18650499
CNV End: 18665387
CNV Size: 14889
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-11045.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626755
CNV End: 20630175
CNV Size: 3420
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11086.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19361867
CNV End: 19368071
CNV Size: 6204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11135.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630175
CNV Size: 3855
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11255.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 19372771
CNV End: 19443150
CNV Size: 70379
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11267.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 13

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19710563
CNV End: 19936647
CNV Size: 226084
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11294.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 19318175
CNV End: 19343443
CNV Size: 25268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11305.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11309.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19318175
CNV End: 19343443
CNV Size: 25268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11349.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 21549348
CNV End: 21551053
CNV Size: 1705
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11363.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11587.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19318175
CNV End: 19343443
CNV Size: 25268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11627.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11665.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626755
CNV End: 20630175
CNV Size: 3420
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11824.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 21542217
CNV End: 21546144
CNV Size: 3927
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11827.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 17

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11909.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630175
CNV Size: 3855
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11919.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630175
CNV Size: 3855
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12011.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19318175
CNV End: 19349410
CNV Size: 31235
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12137.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 19119855
CNV End: 19430968
CNV Size: 311113
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: MPHOSPH8, PSPC1, ZMYM2, ZMYM5

sanders_11_ASD_discovery_cases-12150.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20200058
CNV End: 20219254
CNV Size: 19196
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12187.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12240.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19323948
CNV End: 19349410
CNV Size: 25462
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12306.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12308.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 105

Sanders SJ , et al. (2011)
Primary Diagnosis: Aspergers

Age: 14

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630175
CNV Size: 3855
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12362.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 19318175
CNV End: 19343443
CNV Size: 25268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12379.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12403.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 22119348
CNV End: 22122008
CNV Size: 2660
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12407.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19318175
CNV End: 19349410
CNV Size: 31235
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12561.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19323948
CNV End: 19349410
CNV Size: 25462
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12568.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630175
CNV Size: 3855
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12757.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12879.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13095.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13168.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20627226
CNV End: 20630348
CNV Size: 3122
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

prasad_12_ASD_discovery_cases-case91547L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 20446469
CNV End: 20601895
CNV Size: 155427
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

krumm_13_ASD_discovery_cases-case11676.p1

Clinical Profile:

ASD proband from SSC quad family 11676. SRS score of 90.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 78.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21303218
CNV End: 21311944
CNV Size: 8726
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: -

krumm_13_ASD_discovery_cases-case12011.p1

Clinical Profile:

ASD proband from SSC quad family 12011. SRS score of 82.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 82.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20425494
CNV End: 20426320
CNV Size: 826
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: -

krumm_13_ASD_discovery_cases-case12561.p1

Clinical Profile:

ASD proband from SSC quad family 12561. SRS score of 73.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 102.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20425494
CNV End: 20426320
CNV Size: 826
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: -

krumm_13_ASD_discovery_cases-case13322.p1

Clinical Profile:

ASD proband from SSC quad family 13322. SRS score of 77.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 59.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20425494
CNV End: 20426320
CNV Size: 826
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: -

krumm_15_ASD_discovery_cases-case11043.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11045.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11050.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11052.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11064.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11109.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11117.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11160.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11194.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11201.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11212.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11220.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11247.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case11252.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11301.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11305.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11309.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11327.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11329.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11352.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11363.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11364.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11370.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11387.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case11391.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11412.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11414.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11429.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case11432.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case11458.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11469.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11472.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11521.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11524.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11558.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case11563.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11575.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11597.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11616.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11625.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11665.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11676.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21303218
CNV End: 21306260
CNV Size: 3042
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: N6AMT2, Exon (5/5), Intron (4/4), Exon (4/5)

krumm_15_ASD_discovery_cases-case11691.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11753.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11797.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11824.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11827.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11851.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11869.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11893.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11897.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case11916.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11939.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11959.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21721324
CNV End: 21746645
CNV Size: 25321
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SAP18, SKA3, Exon (4/4), Exon (9/9), Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Exon (8/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case11978.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12007.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21734033
CNV End: 21746645
CNV Size: 12612
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12025.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12046.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12056.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12093.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12097.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case12137.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20222561
CNV End: 20426320
CNV Size: 203759
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: MPHOSPH8, PSPC1, ZMYM5, Intron (5/13), Exon (6/14), Intron (7/13), Exon (8/14), Intron (8/13), Intron (9/13), Exon (10/14), Intron (10/13), Intron (11/13), Intron (12/13), Intron (13/13), Exon (14/14), Exon (10/10), Intron (9/9), Exon (9/10), Intron (8/9), Intron (7/9), Exon (7/10), Intron (6/9), Exon (6/10), Intron (5/9), Intron (4/9), Intron (3/9), Exon (3/10), Intron (2/9), Exon (2/10), Exon (8/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (5/5), Intron (4/4), Exon (6/6), Intron (5/5), Exon (5/6), Intron (4/5)

krumm_15_ASD_discovery_cases-case12153.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746841
CNV Size: 17606
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Exon (3/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7), Exon (3/8)

krumm_15_ASD_discovery_cases-case12194.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12225.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12274.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12335.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12343.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case12359.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case12426.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12430.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12439.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12448.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12507.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case12517.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12540.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12607.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12610.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12617.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12630.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12633.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12695.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12700.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12717.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12736.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12749.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12792.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case12799.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12842.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12907.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case12932.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21720943
CNV End: 21746645
CNV Size: 25702
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg19
Gene Content: SAP18, SKA3, Exon (4/4), Exon (9/9), Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Exon (8/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12962.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12964.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case12969.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13038.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13039.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13057.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13071.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case13089.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13120.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13139.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13165.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13207.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case13239.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13252.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13307.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746841
CNV Size: 17606
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Exon (3/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7), Exon (3/8)

krumm_15_ASD_discovery_cases-case13324.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13367.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13424.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13447.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13455.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13496.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13534.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13557.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13567.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13576.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case13606.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13645.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13654.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13764.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13781.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13793.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13823.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case13864.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13895.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13901.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case13913.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case13927.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case13982.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_cases-case13985.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case14013.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case14044.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20067564
CNV End: 20568061
CNV Size: 500497
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: TPTE2, MPHOSPH8, PSPC1, ZMYM5, ZMYM2

krumm_15_ASD_discovery_cases-case14104.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21720943
CNV End: 21746645
CNV Size: 25702
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg19
Gene Content: SAP18, SKA3, Exon (4/4), Exon (9/9), Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Exon (8/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case14123.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case14147.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case14193.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case14200.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case14369.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case14399.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_cases-case14455.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

prasad_12_ASD_discovery_cases-case122692L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21013000
CNV End: 21020730
CNV Size: 7731
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case138645L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19885140
CNV End: 19912001
CNV Size: 26862
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

engchuan_15_ASD_discovery_cases-case4230_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19128525
CNV End: 19226143
CNV Size: 97618
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case4462_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 20976174
CNV End: 21041703
CNV Size: 65529
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case5285_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 20450462
CNV End: 20601584
CNV Size: 151122
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

girirajan_13a_ASD_discovery_cases-13287.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18540000
CNV End: 18840000
CNV Size: 302000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: hg18
Gene Content: -

girirajan_13a_ASD_discovery_cases-13784.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 19133515
CNV End: 19223738
CNV Size: 90223
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: MPHOSPH8, PSPC1

girirajan_13a_ASD_discovery_cases-14044.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18991146
CNV End: 19470342
CNV Size: 479196
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg18
Gene Content: TPTE2, MPHOSPH8, PSPC1, ZMYM5, ZMYM2

girirajan_13a_ASD_discovery_cases-14452.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 19700000
CNV End: 20000000
CNV Size: 304000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: hg18
Gene Content: GJB6, CRYL1

girirajan_13a_ASD_discovery_cases-AU074403

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 19700000
CNV End: 20000000
CNV Size: 304000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: hg18
Gene Content: GJB6, CRYL1

girirajan_13a_ASD_discovery_cases-AU1744301

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 19027522
CNV End: 19503622
CNV Size: 476100
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: hg18
Gene Content: MPHOSPH8, PSPC1, ZMYM5, ZMYM2

engchuan_15_ASD_discovery_cases-case8197_202

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19036645
CNV End: 19396817
CNV Size: 360172
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case8617_201

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19704975
CNV End: 19919343
CNV Size: 214368
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

girirajan_13b_ASD_discovery_cases-7908109348

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19060238
CNV End: 19197927
CNV Size: 137689
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Build36/hg18
Gene Content: MPHOSPH8, PSPC1

engchuan_15_ASD_discovery_cases-case14039_680

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19710563
CNV End: 19919343
CNV Size: 208780
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case18094_301

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19029135
CNV End: 19506738
CNV Size: 477603
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

poultney_13_ASD_discovery_cases-case05HI3947A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1514302; NDAR ID NDAR_INVXD529UKD)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 20412838
CNV End: 20426322
CNV Size: 13485
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: hg19
Gene Content: -

poultney_13_ASD_discovery_cases-case98HI0266B

Clinical Profile:

ASD case from AGRE (AGRE ID AU017504; NDAR ID NDAR_INVWK082CR2)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 20277313
CNV End: 20325609
CNV Size: 48297
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: hg19
Gene Content: -

poultney_13_ASD_discovery_cases-case98HI0442A

Clinical Profile:

ASD case from AGRE (AGRE ID AU016404; NDAR ID NDAR_INVHC581UNM)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 20048052
CNV End: 20067643
CNV Size: 19592
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: hg19
Gene Content: -

engchuan_15_ASD_discovery_cases-case14141_2390

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19710563
CNV End: 19928892
CNV Size: 218329
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case14175_2820

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19256616
CNV End: 19323948
CNV Size: 67332
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case14312_4290

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19704975
CNV End: 19928892
CNV Size: 223917
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

walker_13_ASD_discovery_cases-case8-14175-2820

Clinical Profile:

N/A

Cognitive Profile:

N/A

Walker S and Scherer SW (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 19256616
CNV End: 19323948
CNV Size: 67332
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: hg18
Gene Content: -

brandler_16_ASD_discovery_cases_caseREACH000292

Clinical Profile:

Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician

Cognitive Profile:

-

Brandler WM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21131642
CNV End: 21135198
CNV Size: 3557
Validation Description: Solid phase hybridization (Illumina 2.5M)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: -

engchuan_15_ASD_discovery_cases-case20003_1019001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19694497
CNV End: 20000665
CNV Size: 306168
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21439869
CNV End: 21975779
CNV Size: 535910
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001814

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19721293
CNV End: 19993898
CNV Size: 272605
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001857

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19721293
CNV End: 19993898
CNV Size: 272605
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002774

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19498790
CNV End: 21439928
CNV Size: 1941138
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: ZMYM2, GJA3, GJB2, GJB6, CRYL1, IFT88, IL17D, N6AMT2, XPO4, LATS2, SAP18, SKA3, MRP63, ZDHHC20, EFHA1, FGF9

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004140

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19309335
CNV End: 22046706
CNV Size: 2737371
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: ZMYM5, ZMYM2, GJA3, GJB2, GJB6, CRYL1, IFT88, IL17D, N6AMT2, XPO4, LATS2, SAP18, SKA3, MRP63, ZDHHC20, EFHA1, FGF9

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-120

Clinical Profile:

Diagnosis of cerebellar hypoplasia (CBLH).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: CBLH

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19722043
CNV End: 19928892
CNV Size: 206850
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: -
Show all Control Details Show all Cohort Details

13q12.11

Description:

Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan

Diagnosis:

Controls

Yin CL , et al. (2016)
Cohort Size: 1093

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 108897

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

Control

Levy D , et al. (2011)
Cohort Size: 863

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases

Diagnosis:

Controls (no history of psychiatric symptoms by self-report)

Nord AS , et al. (2011)
Cohort Size: 123

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 37828

Deletion: 0
Duplication: 2

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 83
Female: 17
Unknown: -
CNV Size: 826

Deletion: 0
Duplication: 2

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Unaffected siblings from quad families from the Simons Simplex Collection

Diagnosis:

Control

Krumm N , et al. (2015)
Cohort Size: 1786

Age Min: -
Age Max: -
Average: -

Male: 63
Female: 37
Unknown: -
CNV Size: 360173

Deletion: 0
Duplication: 107

Total CNV: 107
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.

Diagnosis:

Control

Prasad A , et al. (2013)
Cohort Size: 5139

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 155427

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)

Diagnosis:

Control

Walker S and Scherer SW (2013)
Cohort Size: 3644

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 67332

Deletion: N/A
Duplication: N/A

Total CNV: N/A
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

Diagnosis:

Controls

Sanders SJ , et al. (2011)
Cohort Size: 872

Age Min: -
Age Max: -
Average: -

Male: 66
Female: 34
Unknown: -
CNV Size: 31235

Deletion: 3
Duplication: 16

Total CNV: 19
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)

Diagnosis:

Controls; subjects had no previous psychiatric history

Engchuan W , et al. (2015)
Cohort Size: 2342

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 266529

Deletion: 6
Duplication: 5

Total CNV: 11
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)

Diagnosis:

Control

Poultney CS , et al. (2013)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 48297

Deletion: 1
Duplication: 2

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)

Diagnosis:

Control

Girirajan S , et al. (2013)
Cohort Size: 223

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 112168

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q12.11

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: NA

Deletion: NA
Duplication: NA

Total CNV: NA
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Control Details Show all Cohort Details

nord_11_ASD_discovery_controls-04C26659

Clinical Profile:

-

Cognitive Profile:

-

Nord AS , et al. (2011)
Primary Diagnosis: Control

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19314564
CNV End: 19352391
CNV Size: 37828
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
Gene Content: -

nord_11_ASD_discovery_controls-04C27935

Clinical Profile:

-

Cognitive Profile:

-

Nord AS , et al. (2011)
Primary Diagnosis: Control

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19314564
CNV End: 19345384
CNV Size: 30821
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_controls-11108.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20625038
CNV End: 20630175
CNV Size: 5137
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11224.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626320
CNV End: 20630175
CNV Size: 3855
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11349.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 21549348
CNV End: 21551053
CNV Size: 1705
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11488.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 19318175
CNV End: 19343443
CNV Size: 25268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11509.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 20

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 19318175
CNV End: 19343443
CNV Size: 25268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11563.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 19323948
CNV End: 19343443
CNV Size: 19495
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11564.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 6

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 19867210
CNV End: 19876006
CNV Size: 8796
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11627.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11753.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 15

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626945
CNV End: 20627226
CNV Size: 281
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11775.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626320
CNV End: 20630175
CNV Size: 3855
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11827.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 20

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11909.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12011.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 19318175
CNV End: 19349410
CNV Size: 31235
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12033.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626755
CNV End: 20630175
CNV Size: 3420
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12051.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12083.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12187.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 10

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626320
CNV End: 20627226
CNV Size: 906
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12403.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 22119348
CNV End: 22122008
CNV Size: 2660
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12674.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 4

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 20626320
CNV End: 20630348
CNV Size: 4028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

krumm_13_ASD_discovery_controls-control11509.s1

Clinical Profile:

Unaffected sibling from SSC quad family 11509. SRS score N/A.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20425494
CNV End: 20426320
CNV Size: 826
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: -

krumm_13_ASD_discovery_controls-control12011.s1

Clinical Profile:

Unaffected sibling from SSC quad family 12011. SRS score of 43.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20425494
CNV End: 20426320
CNV Size: 826
Validation Description: Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: -

krumm_15_ASD_discovery_controls-control11045.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control11046.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11159.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11160.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11190.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11201.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11212.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11220.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11251.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control11325.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11330.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746841
CNV Size: 17606
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Exon (3/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7), Exon (3/8)

krumm_15_ASD_discovery_controls-control11339.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11347.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11391.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11412.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11450.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control11458.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11463.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11466.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11472.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11521.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11542.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11575.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11597.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11616.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11625.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746841
CNV Size: 17606
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Exon (3/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7), Exon (3/8)

krumm_15_ASD_discovery_controls-control11775.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746841
CNV Size: 17606
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Exon (3/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7), Exon (3/8)

krumm_15_ASD_discovery_controls-control11792.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746841
CNV Size: 17606
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Exon (3/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7), Exon (3/8)

krumm_15_ASD_discovery_controls-control11797.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11812.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control11869.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11939.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11959.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11981.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control11982.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control11984.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control12007.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control12041.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12044.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12229.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12231.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12274.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12329.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12382.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12399.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12518.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control12540.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12568.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12610.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12626.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12695.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12700.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control12701.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12840.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21742540
CNV Size: 13305
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8)

krumm_15_ASD_discovery_controls-control12923.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12924.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21729235
CNV End: 21746645
CNV Size: 17410
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: hg19
Gene Content: SKA3, Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Exon (6/9), Intron (5/8), Exon (5/9), Intron (4/8), Exon (4/9), Intron (3/8), Intron (7/7), Exon (7/8), Intron (6/7), Exon (6/8), Intron (5/7), Exon (5/8), Intron (4/7), Exon (4/8), Intron (3/7)

krumm_15_ASD_discovery_controls-control12930.s1