Copy Number Variants / 13q31.1

13q31.1

Case population data
Control population data
Type
Deletion-Duplication
Average Length
73484
Range
81035524-81592750
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
14
Populations
20 (14 case / 6 control)
Individuals
250 (137 case / 113 control)
Summary

Summary statement in development

Reports related to 13q31.1 (14 Reports)
# Type Title Author, Year
1 Minor Identifying autism loci and genes by tracing recent shared ancestry. Morrow EM , et al. (2008)
2 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
3 Minor Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Nord AS , et al. (2011)
4 Minor Novel copy number variants in children with autism and additional developmental anomalies. Davis LK , et al. (2009)
5 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)
6 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)
7 Major Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. Salyakina D , et al. (2011)
8 Minor Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
9 Minor Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi... Lesca G , et al. (2012)
10 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
11 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
12 Minor The landscape of copy number variations in Finnish families with autism spectrum disorders. Kanduri C , et al. (2015)
13 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
14 Minor Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Leppa VM , et al. (2016)
Show all Case Details Show all Cohort Details

13q31.1

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: 45194

Deletion: 0
Duplication: 1

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

13q31.1

Description:

Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).

Diagnosis:

Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,

Lesca G , et al. (2012)
Cohort Size: 61

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 36000

Deletion: 1
Duplication: 0

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

13q31.1

Description:

Youth with ASD (as part of mother-father-child trios)

Diagnosis:

ASD

Nord AS , et al. (2011)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 47032

Deletion: 1
Duplication: 0

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

13q31.1

Description:

Autistic cases from Autism Genetic Research Exchange (AGRE)

Diagnosis:

ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features

Davis LK , et al. (2009)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 59905

Deletion: 0
Duplication: 1

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

13q31.1

Description:

Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)

Diagnosis:

Diagnosis according to ADOS and ADI-R

Leppa VM , et al. (2016)
Cohort Size: 1764

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 500000

Deletion: 0
Duplication: 1

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

13q31.1

Description:

Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals

Diagnosis:

ASD (ADI-R and ADOS): strict, broad, or spectrum ASD

Pinto D , et al. (2010)
Cohort Size: 996

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 55488

Deletion: 1
Duplication: 0

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

13q31.1

Description:

Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.

Diagnosis:

ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)

Morrow EM , et al. (2008)
Cohort Size: 94

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 232200

Deletion: 2
Duplication: 0

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

13q31.1

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: 195156

Deletion: 5
Duplication: 2

Total CNV: 7
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.1

Description:

Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control

Diagnosis:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.

Kanduri C , et al. (2015)
Cohort Size: 80

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2874

Deletion: 1
Duplication: 0

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

13q31.1

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: 68
Female: 32
Unknown: -
CNV Size: 557226

Deletion: 81
Duplication: 13

Total CNV: 94
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.1

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: 276087

Deletion: 19
Duplication: 2

Total CNV: 21
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.1

Description:

ASD cases with sporadic autism from the Simons Simplex Collection (SSC)

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.

Girirajan S , et al. (2011)
Cohort Size: 336

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 672264

Deletion: 0
Duplication: 1

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

13q31.1

Description:

ASD patients from extended ASD families (defined as families with at least two affected cousins)

Diagnosis:

ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS

Salyakina D , et al. (2011)
Cohort Size: 97

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 5237

Deletion: 3
Duplication: 0

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

13q31.1

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: 2836543

Deletion: 2
Duplication: 0

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

nord_11_ASD_discovery_cases-256-1

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83476851
CNV End: 83523882
CNV Size: 47032
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: -
Gene Content: -

yin_16_ASD_discovery_cases-case450

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: 85980783
CNV End: 86025976
CNV Size: 45194
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: -

lesca_12_EP_discovery_cases-caseDZ77

Clinical Profile:

Phenotype: i-CSWSS. Seizure Characteristics: Awake. Autistic features: Yes. ADHD features: Yes. Other features: None.

Cognitive Profile:

Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 65, performance IQ 78 (at 4.5 years of age).

Lesca G , et al. (2012)
Primary Diagnosis: Epilepsy + autistic features

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 80422093
CNV End: 80458137
CNV Size: 36000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: UCSC Genome Browser build37
Gene Content: -

davis_09_ASD_discovery_cases-AU1376302

Clinical Profile:

Diagnosis: autism. Syndromic autism features: iris coloboma

Cognitive Profile:

-

Davis LK , et al. (2009)
Primary Diagnosis: Syndromic ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 82986031
CNV End: 83078785
CNV Size: 59905
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

girirajan_11_ASD_discovery_cases-Si144

Clinical Profile:

ADOS score: 10. Vineland composite score: 71.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 82; Non-verbal IQ, 96.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 83545175
CNV End: 84217439
CNV Size: 672264
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

leppa_16_ASD_discovery_cases-AU3127302

Clinical Profile:

-

Cognitive Profile:

-

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 80631000
CNV End: 81128000
CNV Size: 500000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh37/hg19
Gene Content: -

morrow_08_ASD_discovery_cases-case5201

Clinical Profile:

NA

Cognitive Profile:

NA

Morrow EM , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 81946000
CNV End: 82043000
CNV Size: 97000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: -
Gene Content: -

kanduri_15_ASD_discovery_cases-case3076

Clinical Profile:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 83788742
CNV End: 83791615
CNV Size: 2874
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: N/A
Gene Content: Intergenic CNV: nearest genes, SLITRK1(dist=659725)

morrow_08_ASD_discovery_cases-case11401

Clinical Profile:

NA

Cognitive Profile:

NA

Morrow EM , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 82122000
CNV End: 82354000
CNV Size: 232200
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: -
Gene Content: -

pinto_10_ASD_discovery_cases-case5107_3

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55488
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case77203

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: 81596666
CNV End: 81639138
CNV Size: 42473
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case77203

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: 81437997
CNV End: 81482530
CNV Size: 44534
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case85750

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: 82181914
CNV End: 82228103
CNV Size: 46190
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-11027.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83063672
CNV Size: 63231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11030.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82090231
CNV End: 82096952
CNV Size: 6721
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11037.p1

Clinical Profile:

NA

Cognitive Profile:

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

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11092.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84181912
CNV End: 84187773
CNV Size: 5861
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11168.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 79319341
CNV End: 79352537
CNV Size: 33196
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11181.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 101

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 81142303
CNV End: 81515763
CNV Size: 373460
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11206.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83063672
CNV Size: 63231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11274.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11297.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73

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

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 82943914
CNV End: 82965062
CNV Size: 21148
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11300.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82684518
CNV End: 82689616
CNV Size: 5098
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11301.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11323.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98

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

Age: 8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83063628
CNV Size: 63187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11333.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11347.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37

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

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84754135
CNV End: 84766324
CNV Size: 12189
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11352.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60

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

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11396.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82844883
CNV End: 82856078
CNV Size: 11195
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11440.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122

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

Age: 8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 80852877
CNV End: 80885095
CNV Size: 32218
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11466.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 85837196
CNV End: 86040858
CNV Size: 203662
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11518.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84700708
CNV Size: 1165
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-11520.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82198270
CNV End: 82229839
CNV Size: 31569
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11557.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11567.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34

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

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 86073472
CNV End: 86261101
CNV Size: 187629
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11578.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115

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

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83543510
CNV End: 83564437
CNV Size: 20927
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11609.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83

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

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 82844883
CNV End: 82851694
CNV Size: 6811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
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: 79318040
CNV End: 79346535
CNV Size: 28495
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11677.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11680.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 83000441
CNV End: 83063672
CNV Size: 63231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11709.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59

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

Age: 6

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 83004473
CNV End: 83055928
CNV Size: 51455
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11724.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83060797
CNV End: 83080600
CNV Size: 19803
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11765.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83063628
CNV Size: 63187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11782.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64

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

Age: 5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 81035524
CNV End: 81592750
CNV Size: 557226
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11806.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11809.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11810.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83060797
CNV Size: 60356
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11835.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11893.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30

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

Age: 8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 82844883
CNV End: 82851694
CNV Size: 6811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11911.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79

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

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84700708
CNV Size: 1165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11989.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 80038567
CNV End: 80044397
CNV Size: 5830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11995.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77

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

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12001.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111

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

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83063628
CNV Size: 63187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12026.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 83000441
CNV End: 83063672
CNV Size: 63231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12033.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12093.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 82089239
CNV End: 82096952
CNV Size: 7713
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12096.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 81228082
CNV End: 81254514
CNV Size: 26432
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12103.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12184.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21

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

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84740751
CNV End: 84747252
CNV Size: 6501
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12210.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12231.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83063628
CNV Size: 63187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12239.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12297.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89

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

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12310.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12310.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12320.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82844883
CNV End: 82851694
CNV Size: 6811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12346.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12360.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
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: 81276977
CNV End: 81278283
CNV Size: 1306
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12390.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 86; non-verbal IQ, 97; verbal IQ, 75

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82844883
CNV End: 82851694
CNV Size: 6811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12392.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
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: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12420.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
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-12420.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82844883
CNV End: 82851694
CNV Size: 6811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12430.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106

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

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84700708
CNV Size: 1165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12438.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
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-12444.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79

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

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 80627385
CNV End: 80696423
CNV Size: 69038
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12462.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12483.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102

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

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12497.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83074880
CNV Size: 74439
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12505.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48

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

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 82844883
CNV End: 82851694
CNV Size: 6811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12536.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81

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

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12555.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12582.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83733220
CNV End: 83765905
CNV Size: 32685
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12582.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82996585
CNV End: 83069357
CNV Size: 72772
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12582.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 86104430
CNV End: 86209475
CNV Size: 105045
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12647.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
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-12669.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 91; verbal IQ, 120

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83063628
CNV Size: 63187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12742.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12749.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12785.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83063672
CNV Size: 63231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12832.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51

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

Age: 6

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12894.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
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-12948.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81

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

Age: 17

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 83120737
CNV End: 83133677
CNV Size: 12940
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13001.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13005.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82685476
CNV End: 82689616
CNV Size: 4140
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13019.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20

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

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 79983065
CNV End: 80044009
CNV Size: 60944
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13033.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 83000441
CNV End: 83063672
CNV Size: 63231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13048.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26

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

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13048.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26

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

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84756194
CNV End: 84766324
CNV Size: 10130
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13174.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83063628
CNV Size: 63187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13216.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 85497775
CNV End: 85563006
CNV Size: 65231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13226.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 83000441
CNV End: 83075211
CNV Size: 74770
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13244.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63

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

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13301.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13322.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 84699543
CNV End: 84700708
CNV Size: 1165
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-13324.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 81228082
CNV End: 81263766
CNV Size: 35684
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

prasad_12_ASD_discovery_cases-case139324

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: 79283299
CNV End: 79319235
CNV Size: 35937
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case67953L

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: 80807827
CNV End: 81002982
CNV Size: 195156
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case77405L

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: 85431338
CNV End: 85440037
CNV Size: 8700
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case146446L

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: 84187976
CNV End: 84221529
CNV Size: 33554
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

engchuan_15_ASD_discovery_cases-case3310_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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case3615_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: 86382515
CNV End: 86461466
CNV Size: 78951
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case4336_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: 83000441
CNV End: 83060797
CNV Size: 60356
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case4390_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: 85506597
CNV End: 85563006
CNV Size: 56409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case5107_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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case5257_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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case6002_4

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: 83534671
CNV End: 83621378
CNV Size: 86707
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case6030_6

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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

salyakina_11_ASD_discovery_cases-17142_001

Clinical Profile:

Overall low muscle tone, delayed language development

Cognitive Profile:

-

Salyakina D , et al. (2011)
Primary Diagnosis: PDD-NOS

Age: -

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 77912491
CNV End: 77917728
CNV Size: 5237
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: Build NCBI36/hg18
Gene Content: -

salyakina_11_ASD_discovery_cases-17142_101

Clinical Profile:

-

Cognitive Profile:

-

Salyakina D , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 77912491
CNV End: 77917728
CNV Size: 5237
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: Build NCBI36/hg18
Gene Content: -

salyakina_11_ASD_discovery_cases-17142_106

Clinical Profile:

ADHD symptoms, depression, possible schizophrenia, seizures. Regression of social engagement at 96 months.

Cognitive Profile:

-

Salyakina D , et al. (2011)
Primary Diagnosis: PDD-NOS

Age: -

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 77912491
CNV End: 77917728
CNV Size: 5237
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: Build NCBI36/hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case8497_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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case13014_193

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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case13053_633

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: 80088879
CNV End: 80128930
CNV Size: 40051
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case14109_1970

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: 86185976
CNV End: 86223905
CNV Size: 37929
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case14143_2410

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: 83019646
CNV End: 83122205
CNV Size: 102559
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case14179_2900

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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case14179_2900

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: 80900000
CNV End: 81059900
CNV Size: 159900
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case14203_3290

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: 82996585
CNV End: 83055928
CNV Size: 59343
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case20028_1134001

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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case20045_1261001

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: 80315897
CNV End: 80475276
CNV Size: 159379
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case20048_1265001

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: 81090400
CNV End: 81228082
CNV Size: 137682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case20160_1432001

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: 84747040
CNV End: 85023127
CNV Size: 276087
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004365

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: 79473722
CNV End: 82310265
CNV Size: 2836543
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-ISCA00004993

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: 81696137
CNV End: 82776105
CNV Size: 1079968
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: -

engchuan_15_ASD_discovery_cases-case16029_1571001001

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: 78603924
CNV End: 78660376
CNV Size: 56452
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -
Show all Control Details Show all Cohort Details

13q31.1

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: 45194

Deletion: 0
Duplication: 0

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

13q31.1

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: 335727

Deletion: 2
Duplication: 1

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

13q31.1

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: 195156

Deletion: 0
Duplication: 0

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

13q31.1

Description:

Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control

Diagnosis:

Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Kanduri C , et al. (2015)
Cohort Size: 269

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 226757

Deletion: 6
Duplication: 0

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

13q31.1

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: 68
Female: 32
Unknown: -
CNV Size: 494206

Deletion: 63
Duplication: 16

Total CNV: 79
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.1

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: 194827

Deletion: 23
Duplication: 4

Total CNV: 27
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.1

Description:

Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.

Diagnosis:

Control. Individuals screened specifically for eight mental health disorders.

Girirajan S , et al. (2011)
Cohort Size: 337

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 672264

Deletion: 0
Duplication: 0

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

13q31.1

Description:

Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)

Diagnosis:

Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions

Salyakina D , et al. (2011)
Cohort Size: 838

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 5237

Deletion: 0
Duplication: 0

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

13q31.1

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-04C27071

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 80609008
CNV End: 80944734
CNV Size: 335727
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
Gene Content: -

nord_11_ASD_discovery_controls-04C28227

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 82727560
CNV End: 82793057
CNV Size: 65498
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_controls-11168.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: 79324746
CNV End: 79346535
CNV Size: 21789
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11181.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: 81142303
CNV End: 81515763
CNV Size: 373460
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11206.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: 83000441
CNV End: 83063672
CNV Size: 63231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11274.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11296.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11323.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: 83000441
CNV End: 83063672
CNV Size: 63231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11339.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82770886
CNV End: 83265092
CNV Size: 494206
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11345.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: 85466585
CNV End: 85532243
CNV Size: 65658
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11347.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 17

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 84756194
CNV End: 84766324
CNV Size: 10130
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11400.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: 80315897
CNV End: 80491749
CNV Size: 175852
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11413.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 79924093
CNV End: 79937828
CNV Size: 13735
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11440.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: 80852877
CNV End: 80888174
CNV Size: 35297
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11453.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: 82844883
CNV End: 82851694
CNV Size: 6811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11466.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: 85837196
CNV End: 86048657
CNV Size: 211461
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11474.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 19

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83024221
CNV End: 83198410
CNV Size: 174189
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11502.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11520.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: 83374544
CNV End: 83378741
CNV Size: 4197
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11520.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: 82198270
CNV End: 82235439
CNV Size: 37169
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11550.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: 86033803
CNV End: 86136841
CNV Size: 103038
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11557.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
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: 81228082
CNV End: 81254514
CNV Size: 26432
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11567.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: 86323611
CNV End: 86351343
CNV Size: 27732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11567.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: 86073472
CNV End: 86261101
CNV Size: 187629
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11578.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: 83543510
CNV End: 83564437
CNV Size: 20927
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
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: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11666.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82085067
CNV End: 82096952
CNV Size: 11885
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11700.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11724.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 14

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83060797
CNV End: 83075211
CNV Size: 14414
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11794.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: 82995873
CNV End: 83074880
CNV Size: 79007
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11798.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: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
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: 84699543
CNV End: 84700708
CNV Size: 1165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11835.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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11855.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: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11857.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: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11879.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: 83000441
CNV End: 83060797
CNV Size: 60356
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11894.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11954.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: 84682965
CNV End: 84699594
CNV Size: 16629
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11990.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83265092
CNV End: 83289837
CNV Size: 24745
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12037.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83000441
CNV End: 83063628
CNV Size: 63187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12096.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 81228082
CNV End: 81254514
CNV Size: 26432
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12113.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12304.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12320.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 23

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82844883
CNV End: 82851694
CNV Size: 6811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12331.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: 82345231
CNV End: 82349879
CNV Size: 4648
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12337.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 80727787
CNV End: 80868843
CNV Size: 141056
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12337.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83543510
CNV End: 83799725
CNV Size: 256215
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12339.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: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12367.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: 84699543
CNV End: 84702088
CNV Size: 2545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12409.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: 79438904
CNV End: 79479594
CNV Size: 40690
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12420.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: 82844883
CNV End: 82856078
CNV Size: 11195
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12441.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: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12497.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: 82988383
CNV End: 83063628
CNV Size: 75245
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12515.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82089239
CNV End: 82096952
CNV Size: 7713
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12582.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83000441
CNV End: 83069357
CNV Size: 68916
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12582.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 86102860
CNV End: 86209475
CNV Size: 106615
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12618.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 85136351
CNV End: 85147651
CNV Size: 11300
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12647.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 84699543
CNV End: 84700708
CNV Size: 1165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12669.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83000441
CNV End: 83060797
CNV Size: 60356
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12671.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 17

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12691.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 23

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 78103413
CNV End: 78106415
CNV Size: 3002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12708.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 84699543
CNV End: 84700708
CNV Size: 1165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12722.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83000441
CNV End: 83063628
CNV Size: 63187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12780.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: 82844883
CNV End: 82851694
CNV Size: 6811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12785.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 16

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 82987208
CNV End: 83069357
CNV Size: 82149
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12832.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: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12838.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: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12892.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: 81270269
CNV End: 81290693
CNV Size: 20424
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12921.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: 78593828
CNV End: 78610680
CNV Size: 16852
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12989.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83000441
CNV End: 83063672
CNV Size: 63231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13001.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: 83543510
CNV End: 83564437
CNV Size: 20927
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13048.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: 82686707
CNV End: 82689616
CNV Size: 2909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13048.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: 82180429
CNV End: 82228166
CNV Size: 47737
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13057.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: 84699543
CNV End: 84700708
CNV Size: 1165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13159.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 83649411
CNV End: 83685937
CNV Size: 36526
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13162.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: 77912491
CNV End: 77917728
CNV Size: 5237
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13174.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: 83000441
CNV End: 83063628
CNV Size: 63187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13226.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: 83000441
CNV End: 83060797
CNV Size: 60356
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13322.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 14

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 84699543
CNV End: 84700708
CNV Size: 1165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13324.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 81228082
CNV End: 81263766
CNV Size: 35684
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

kanduri_15_ASD_discovery_controls-control_split437

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 87283152
CNV End: 87463100
CNV Size: 179949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: N/A
Gene Content: Intergenic CNV: nearest genes, SLITRK6(dist=909669),MIR4500HG(dist=633142)

kanduri_15_ASD_discovery_controls-control_split474

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 85013168
CNV End: 85172949
CNV Size: 159782
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: N/A
Gene Content: LINC00333 (non-coding RNA, exonic)

kanduri_15_ASD_discovery_controls-control_split902

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 87463100
CNV End: 87689856
CNV Size: 226757
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: N/A
Gene Content: Intergenic CNV: nearest genes, SLITRK6(dist=1089617),MIR4500HG(dist=406386)

kanduri_15_ASD_discovery_controls-control_split963

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83788742
CNV End: 83791615
CNV Size: 2874
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: N/A
Gene Content: Intergenic CNV: nearest genes, SLITRK1(dist=659725)

kanduri_15_ASD_discovery_controls-control_split1211

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 87463100
CNV End: 87689856
CNV Size: 226757
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: N/A
Gene Content: Intergenic CNV: nearest genes, SLITRK6(dist=1089617),MIR4500HG(dist=406386)

kanduri_15_ASD_discovery_controls-control_split1932

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 81919202
CNV End: 82102166
CNV Size: 182965
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: N/A
Gene Content: Intergenic CNV: nearest genes, SPRY2(dist=1004116)

engchuan_15_ASD_discovery_controls-control110036015030_

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 81210699
CNV End: 81254514
CNV Size: 43815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB133359_1007842669

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB182205_0057061577

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83060797
CNV Size: 60356
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB246144_1007852649

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 85969056
CNV End: 86017648
CNV Size: 48592
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB295710_1007841796

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB369176_1007843525

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 82978441
CNV End: 83055928
CNV Size: 77487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB472351_1007842232

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 86002839
CNV End: 86117597
CNV Size: 114758
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB543816_1007853746

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 80469372
CNV End: 80571474
CNV Size: 102102
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB774739_1007872529

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB787931_1007853911

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83069357
CNV Size: 68916
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900160_900160

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900182_900182

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 81321705
CNV End: 81453221
CNV Size: 131516
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900246_900246

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 85606472
CNV End: 85657834
CNV Size: 51362
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900302_900302

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 78603924
CNV End: 78660376
CNV Size: 56452
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900537_900537

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 78295210
CNV End: 78349257
CNV Size: 54047
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900638_900638

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83164431
CNV End: 83241691
CNV Size: 77260
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_901015_901015

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 82996585
CNV End: 83055928
CNV Size: 59343
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_901183_901183

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 82474099
CNV End: 82530005
CNV Size: 55906
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_901262_901262

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 80808042
CNV End: 81002869
CNV Size: 194827
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902459_902459

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 85503289
CNV End: 85563006
CNV Size: 59717
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902492_902492

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902495_902495

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 84699543
CNV End: 84802577
CNV Size: 103034
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902562_902562

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902596_902596

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902795_902795

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902824_902824

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 83000441
CNV End: 83055928
CNV Size: 55487
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -
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