Copy Number Variants / 13q14.11

13q14.11

Case population data
Control population data
Type
Deletion-Duplication
Average Length
204048
Range
43342108-44055351
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
16
Populations
23 (17 case / 6 control)
Individuals
87 (55 case / 32 control)
Summary

Summary statement in development

Reports related to 13q14.11 (16 Reports)
# Type Title Author, Year
1 Major Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008)
2 Major Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ... Cusc I , et al. (2009)
3 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
4 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
5 Minor Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Nord AS , et al. (2011)
6 Major Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
7 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)
8 Minor Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
9 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
10 Major Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
11 Major Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Sajan SA , et al. (2013)
12 Minor Copy number variation in Han Chinese individuals with autism spectrum disorder. Gazzellone MJ , et al. (2014)
13 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
14 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
15 Minor Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Brand H , et al. (2015)
16 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
Show all Case Details Show all Cohort Details

13q14.11

Description:

Discovery case samples derived from AGRE set 4 (most recent patient recruitment)

Diagnosis:

Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

Gai X , et al. (2011)
Cohort Size: 631

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 45616

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European

13q14.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 287115

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Genome-Wide Human SNP Array 6.0
Software: Affymetrix Genotyping Console v4.1
Algorithm: -
Geographical Ancestry: Han Chinese

13q14.11

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: 506253

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen HD2
Software: -
Algorithm: Sliding-window algorithm, ~10 kb minumum size threshold
Geographical Ancestry: 29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry

13q14.11

Description:

ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011

Diagnosis:

Diagnosis of ASD

Brand H , et al. (2015)
Cohort Size: 259

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 587348

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Long-insert WGS

Validation Method:

None

Platform: Long-insert whole genome sequencing
Software: -
Algorithm: LUMPY, cn.MOPS, SV classifier
Geographical Ancestry: N/A

13q14.11

Description:

74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD

Diagnosis:

ASD

Cusc I , et al. (2009)
Cohort Size: 96

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 415433

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

MLPA, aCGH, and/or array SNP

Platform: BAC array containing 5442 large insert DNA fragments
Software: CNV partition
Algorithm: PennCNV
Geographical Ancestry: Spanish

13q14.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 609255

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection

Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A

13q14.11

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

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

Age Min: -
Age Max: -
Average: -

Male: 60
Female: 40
Unknown: -
CNV Size: 771846

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

13q14.11

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: 88257

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), and/or array SNP (Affy 500K)

Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP & iPattern
Geographical Ancestry: European

13q14.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 67
Female: 33
Unknown: -
CNV Size: 323338

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada

13q14.11

Description:

Replication cohort of ASD patients

Diagnosis:

ASD

Cusc I , et al. (2009)
Cohort Size: 215

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 415433

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

MLPA

Validation Method:

-

Platform: MLPA panel containing probes targeting CNVs identified in discovery
Software: -
Algorithm: -
Geographical Ancestry: -

13q14.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 62
Female: 38
Unknown: -
CNV Size: 713243

Deletion: 8
Duplication: 16

Total CNV: 24
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina 1M v1 (n=334) or Illumina 1M v3 (n=840)
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&

13q14.11

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 262896

Deletion: 0
Duplication: 6

Total CNV: 6
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q14.11

Description:

Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites

Diagnosis:

ASD

Marshall CR , et al. (2008)
Cohort Size: 427

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 87743

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP, karotyping

Validation Method:

qPCR, qmPCR

Platform: Affy 500K
Software: -
Algorithm: dChip, CNAG, & GEMCA
Geographical Ancestry: 90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African

13q14.11

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: -
Female: 100
Unknown: -
CNV Size: 675432

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q14.11

Description:

ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.

Diagnosis:

Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

Gazzellone MJ , et al. (2014)
Cohort Size: 104

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 20943

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan HD
Software: -
Algorithm: ChAS, iPattern, Nexus, Partek
Geographical Ancestry: Han Chinese

13q14.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3206669

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA

13q14.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 332332

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
Show all Case Details Show all Cohort Details

nord_11_ASD_discovery_cases-250-1

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 506253
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: -
Gene Content: -

brand_15_ASD_discovery_cases-case8

Clinical Profile:

Long-insert WGS identified a dupINVdup involving chromosome 13 in this case. Duplication previously identified by aCGH (chr13:43712053-43751175; hg19).

Cognitive Profile:

-

Brand H , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 43134427
CNV End: 43177858
CNV Size: 43431
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

brand_15_ASD_discovery_cases-case8

Clinical Profile:

Long-insert WGS identified a dupINVdup involving chromosome 13 in this case. Duplication previously identified by aCGH (chr13:43351947-43528769; hg19).

Cognitive Profile:

-

Brand H , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 42774872
CNV End: 42955133
CNV Size: 180261
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FAM216B, LINC00428, ZDHHC4P1, LINC01050, EPSTI1

cusco_09_ASD_discovery_cases-AUT21

Clinical Profile:

NA

Cognitive Profile:

Moderate MR

Cusc I , et al. (2009)
Primary Diagnosis: Autism

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 415433
Validation Description: MLPA & array SNP (Illumina 370)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: -
Gene Content: -

yin_16_ASD_discovery_cases-case448

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: 42889163
CNV End: 43176277
CNV Size: 287115
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ZDHHC4P1, LINC00400, DNAJC15, EPSTI1

brand_15_ASD_discovery_cases-case14

Clinical Profile:

Long-insert WGS identified a dupINVdup involving chromosome 13 in this case. Duplication previously identified by aCGH as combined with another duplication (chr13:41104610-41912340; hg19).

Cognitive Profile:

-

Brand H , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 41143802
CNV End: 41343723
CNV Size: 199921
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: CALM2P3, KBTBD7, MORF4L1P4, RAC1P3, MTRF1, NAA16

brand_15_ASD_discovery_cases-case14

Clinical Profile:

Long-insert WGS identified a dupINVdup involving chromosome 13 in this case. Duplication previously identified by aCGH as combined with another duplication (chr13:41104610-41912340; hg19).

Cognitive Profile:

-

Brand H , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 40523640
CNV End: 41110989
CNV Size: 587348
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RLIMP1, MIR320D1, MIR621, CYCSP34, RGS17P1, MIR3168, SLC25A15, WBP4, LINC00598, FOXO1, MRPS31, ELF1, TPTE2P5, SUGT1P3

gai_11_ASD_discovery_cases-AU1265302

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 45616
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: -

gai_11_ASD_discovery_cases-AU1265303

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 45616
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: -

girirajan_11_ASD_discovery_cases-Si151

Clinical Profile:

ADOS score: 7. Vineland composite score: 50.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 18; Non-verbal IQ, 42.

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

Age: 8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 40530796
CNV End: 41206229
CNV Size: 675432
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RLIMP1, MIR320D1, MIR621, CYCSP34, RGS17P1, MIR3168, RN7SL597P, KBTBD6, CALM2P3, KBTBD7, MORF4L1P4, SLC25A15, WBP4, LINC00598, FOXO1, MRPS31, ELF1, TPTE2P5, SUGT1P3

pinto_10_ASD_discovery_cases-case5405_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: -
CNV End: -
CNV Size: 88257
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case73621

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: -
CNV End: -
CNV Size: 100509
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-11050.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104

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

Age: 5.7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 42767972
CNV End: 43481215
CNV Size: 713243
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: FAM216B, LINC00428, ZDHHC4P1, LINC00400, RPL36P19, ENOX1-AS2, LINC01050, DNAJC15, ENOX1, EPSTI1

sanders_11_ASD_discovery_cases-11328.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81

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

Age: 7.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11348.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 64

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

Age: 7.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 43167710
CNV End: 43214041
CNV Size: 46331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11353.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64

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

Age: 5.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 44293505
CNV End: 44302565
CNV Size: 9060
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11387.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89

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

Age: 8.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11494.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109

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

Age: 17.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 40716643
CNV End: 40750882
CNV Size: 34239
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR320D1, MRPS31

sanders_11_ASD_discovery_cases-11512.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22

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

Age: 5.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 41530692
CNV End: 41531574
CNV Size: 882
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12271.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40

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

Age: 10.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 42382485
CNV End: 42399161
CNV Size: 16676
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12332.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119

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

Age: 12.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12343.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18

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

Age: 6.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 41149643
CNV End: 41338204
CNV Size: 188561
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: CALM2P3, KBTBD7, MORF4L1P4, RAC1P3, MTRF1, NAA16

sanders_11_ASD_discovery_cases-12343.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18

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

Age: 6.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 40530473
CNV End: 41102316
CNV Size: 571842
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RLIMP1, MIR320D1, MIR621, CYCSP34, RGS17P1, MIR3168, SLC25A15, WBP4, LINC00598, FOXO1, MRPS31, ELF1, TPTE2P5, SUGT1P3

sanders_11_ASD_discovery_cases-12372.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80

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

Age: 15.7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 42382485
CNV End: 42399161
CNV Size: 16676
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12405.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99

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

Age: 6.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 43028957
CNV End: 43033007
CNV Size: 4050
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12405.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99

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

Age: 6.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 40781906
CNV End: 40791097
CNV Size: 9191
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12572.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31

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

Age: 14.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12572.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31

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

Age: 14.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 40776200
CNV End: 40791097
CNV Size: 14897
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12597.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66

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

Age: 6.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 40781906
CNV End: 40791097
CNV Size: 9191
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12723.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38

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

Age: 6.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 43028957
CNV End: 43033007
CNV Size: 4050
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
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: 7.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 43137917
CNV End: 43177039
CNV Size: 39122
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
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: 7.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 42777811
CNV End: 42954633
CNV Size: 176822
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: FAM216B, LINC00428, ZDHHC4P1, LINC01050, EPSTI1

sanders_11_ASD_discovery_cases-12851.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14

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

Age: 4.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12989.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88

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

Age: 7.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13136.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31

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

Age: 6.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13193.p1

Clinical Profile:

NA

Cognitive Profile:

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

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

Age: 6.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 42382485
CNV End: 42399161
CNV Size: 16676
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

prasad_12_ASD_discovery_cases-case122628

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: -
CNV End: -
CNV Size: 315046
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

krumm_13_ASD_discovery_cases-case12343.p1

Clinical Profile:

ASD proband from SSC quad family 12343. SRS score N/A.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 30.

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 40727501
CNV End: 41336756
CNV Size: 609255
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR320D1, MIR621, CYCSP34, RGS17P1, MIR3168, RN7SL597P, KBTBD6, CALM2P3, KBTBD7, MORF4L1P4, RAC1P3, SLC25A15, WBP4, MTRF1, NAA16, MRPS31, ELF1, TPTE2P5, SUGT1P3

krumm_15_ASD_discovery_cases-case11050.p1

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 42786762
CNV End: 43412914
CNV Size: 626152
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FAM216B, LINC00428, ZDHHC4P1, LINC00400, RPL36P19, LINC01050, DNAJC15, ENOX1, EPSTI1

krumm_15_ASD_discovery_cases-case12343.p1

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 40559522
CNV End: 41331369
CNV Size: 771846
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RLIMP1, MIR320D1, MIR621, CYCSP34, RGS17P1, MIR3168, RN7SL597P, KBTBD6, CALM2P3, KBTBD7, MORF4L1P4, RAC1P3, SLC25A15, WBP4, MTRF1, NAA16, FOXO1, MRPS31, ELF1, TPTE2P5, SUGT1P3

krumm_15_ASD_discovery_cases-case12785.p1

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 42784067
CNV End: 42954021
CNV Size: 169954
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FAM216B, LINC00428, ZDHHC4P1, LINC01050, EPSTI1

krumm_15_ASD_discovery_cases-case12857.p1

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 42784067
CNV End: 43361452
CNV Size: 577385
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FAM216B, LINC00428, ZDHHC4P1, LINC00400, LINC01050, DNAJC15, ENOX1, EPSTI1

prasad_12_ASD_discovery_cases-case115821L

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: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: 323338
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

engchuan_15_ASD_discovery_cases-case2187_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: 43167710
CNV End: 43214041
CNV Size: 46331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case4201_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: 43167710
CNV End: 43214041
CNV Size: 46331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case4321_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: 41710006
CNV End: 41744638
CNV Size: 34632
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case4430_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: 43167710
CNV End: 43214041
CNV Size: 46331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

marshall_08_ASD_discovery_cases-NA0117-000

Clinical Profile:

NA

Cognitive Profile:

NA

Marshall CR , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 43039322
CNV End: 43127064
CNV Size: 87743
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

gazzellone_14_ASD_discovery_cases-case505-3

Clinical Profile:

ASD; no other clinical information provided

Cognitive Profile:

N/A

Gazzellone MJ , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 43013024
CNV End: 43033967
CNV Size: 20943
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

gazzellone_14_ASD_discovery_cases-case677-3

Clinical Profile:

ASD; no other clinical information provided

Cognitive Profile:

N/A

Gazzellone MJ , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 43013024
CNV End: 43033967
CNV Size: 20943
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14263_3860

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: 42942991
CNV End: 43137917
CNV Size: 194926
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DNAJC15, EPSTI1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002798

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: 40799505
CNV End: 44006174
CNV Size: 3206669
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR621, CYCSP34, RGS17P1, MIR3168, RN7SL597P, KBTBD6, CALM2P3, KBTBD7, MORF4L1P4, RAC1P3, RNU6-57P, TUBBP2, OR7E36P, OR7E155P, OR7E37P, MIR5006, RN7SL515P, RNU6-74P, RPS28P8, MAPK6PS3, CHCHD2P11, FHP1, FABP3P2, FAM216B, LINC00428, ZDHHC4P1, LINC00400, RPL36P19, ENOX1-AS2, ENOX1-AS1, DGKZP1, SLC25A15, WBP4, MTRF1, NAA16, RGCC, KARSP1, VWA8-AS1, AKAP11, LINC01050, DNAJC15, CCDC122, LACC1, ELF1, DGKH, LINC02341, TNFSF11, ENOX1, LINC00284, TPTE2P5, SUGT1P3, EPSTI1, VWA8

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-304

Clinical Profile:

Diagnosis of cerebellar hypoplasia (CBLH).

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 42901055
CNV End: 42947091
CNV Size: 46037
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ZDHHC4P1, EPSTI1

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-139

Clinical Profile:

Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: N/A.

Cognitive Profile:

Developmental delay: N/A. Intellectual disability: N/A.

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 40162125
CNV End: 40494456
CNV Size: 332332
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00332, RPL17P51, RNY3P9, RN7SKP2, LINC00598, FOXO1

engchuan_15_ASD_discovery_cases-case16030_1571003001

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: 42917712
CNV End: 43180608
CNV Size: 262896
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ZDHHC4P1, LINC00400, DNAJC15, EPSTI1
Show all Control Details Show all Cohort Details

13q14.11

Description:

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

Diagnosis:

Controls

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 287115

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Genome-Wide Human SNP Array 6.0
Software: Affymetrix Genotyping Console v4.1
Algorithm: -
Geographical Ancestry: Han Chinese

13q14.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen HD2
Software: -
Algorithm: Sliding-window algorithm, ~10 kb minumum size threshold
Geographical Ancestry: -

13q14.11

Description:

Control individuals matched for population ancestry

Diagnosis:

Control

Cusc I , et al. (2009)
Cohort Size: 52

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 415433

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

-

Platform: BAC array containing 5442 large insert DNA fragments
Software: -
Algorithm: -
Geographical Ancestry: Spanish

13q14.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

WES

Validation Method:

None

Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A

13q14.11

Description:

Unaffected siblings from quad families from the Simons Simplex Collection

Diagnosis:

Control

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

Age Min: -
Age Max: -
Average: -

Male: 60
Female: 40
Unknown: -
CNV Size: 575990

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

13q14.11

Description:

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

Diagnosis:

Control

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

Age Min: -
Age Max: -
Average: -

Male: 67
Female: 33
Unknown: -
CNV Size: 323338

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH (PDx controls)

Validation Method:

-

Platform: Agilent 1M (PDx controls)
Software: PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: PDx controls: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: NA

13q14.11

Description:

Replication control cohort

Diagnosis:

Control

Cusc I , et al. (2009)
Cohort Size: 120

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 415433

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

MLPA

Validation Method:

-

Platform: MLPA panel containing probes targeting CNVs identified in discovery
Software: -
Algorithm: -
Geographical Ancestry: -

13q14.11

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: 152864

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium HD Human610-Quad BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish

13q14.11

Description:

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

Diagnosis:

Controls

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

Age Min: -
Age Max: -
Average: -

Male: 62
Female: 38
Unknown: -
CNV Size: 46331

Deletion: 2
Duplication: 8

Total CNV: 10
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 or Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: -

13q14.11

Description:

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

Diagnosis:

Controls; subjects had no previous psychiatric history

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 427154

Deletion: 1
Duplication: 13

Total CNV: 14
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q14.11

Description:

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

Diagnosis:

Control

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

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 381332

Deletion: 1
Duplication: 3

Total CNV: 4
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European

13q14.11

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: -
Female: 100
Unknown: -
CNV Size: 675432

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

-

Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q14.11

Description:

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

Diagnosis:

Control

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 370064

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

-

Platform: Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
Software: -
Algorithm: DNA Copy Number v1.6
Geographical Ancestry: 116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American

13q14.11

Description:

German PopGen project and entries from Database of Genomic Variants

Diagnosis:

Controls

Marshall CR , et al. (2008)
Cohort Size: 500

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP, karotyping

Validation Method:

-

Platform: Affy 500K
Software: -
Algorithm: dChip, CNAG, & GEMCA
Geographical Ancestry: European

13q14.11

Description:

Non-disease controls from Ontario population

Diagnosis:

Controls

Marshall CR , et al. (2008)
Cohort Size: 1152

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP, karotyping

Validation Method:

-

Platform: Affy 500K
Software: -
Algorithm: dChip, CNAG, & GEMCA
Geographical Ancestry: European

13q14.11

Description:

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

Diagnosis:

Controls

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

Age Min: -
Age Max: -
Average: -

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

Deletion: NA
Duplication: NA

Total CNV: NA
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA
Show all Control Details Show all Cohort Details

sanders_11_ASD_discovery_controls-11176.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 8.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11348.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 43167710
CNV End: 43214041
CNV Size: 46331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11360.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 8.4

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11657.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 8.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 43028957
CNV End: 43033007
CNV Size: 4050
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12033.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 12.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 43025275
CNV End: 43042403
CNV Size: 17128
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12229.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 7.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12373.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11.7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 44516342
CNV End: 44525088
CNV Size: 8746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12572.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 6.6

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 43025275
CNV End: 43030022
CNV Size: 4747
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-13136.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 4.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 43025275
CNV End: 43033007
CNV Size: 7732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-13193.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 11.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 42382485
CNV End: 42399161
CNV Size: 16676
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_controls-control12857.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

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

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 42784067
CNV End: 43360057
CNV Size: 575990
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM216B, LINC00428, ZDHHC4P1, LINC00400, LINC01050, DNAJC15, ENOX1, EPSTI1

girirajan_13b_ASD_discovery_controls-34608110415

Clinical Profile:

Ethnicity: Mixed Race

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 42625532
CNV End: 42995078
CNV Size: 369546
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM216B, LINC00428, ZDHHC4P1, LINC01050, EPSTI1

girirajan_13b_ASD_discovery_controls-43206106894

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 43432111
CNV End: 43802175
CNV Size: 370064
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENOX1-AS2, ENOX1-AS1, ENOX1

poultney_13_ASD_discovery_controls-control05C46117

Clinical Profile:

NIMH Control (NIMH ID 16487)

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 42900308
CNV End: 43214123
CNV Size: 313816
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ZDHHC4P1, LINC00400, DNAJC15, ENOX1, EPSTI1

kanduri_15_ASD_discovery_controls-control_split1297

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: -
CNV End: -
CNV Size: 152864
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: -
Gene Content: -

poultney_13_ASD_discovery_controls-control04C27734A

Clinical Profile:

NIMH Control (NIMH ID 28812)

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 41830527
CNV End: 41912170
CNV Size: 81644
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-74P, VWA8

poultney_13_ASD_discovery_controls-control04C29036A

Clinical Profile:

NIMH Control (NIMH ID 93336)

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 42888248
CNV End: 43269579
CNV Size: 381332
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ZDHHC4P1, LINC00400, DNAJC15, ENOX1, EPSTI1

poultney_13_ASD_discovery_controls-control05C41075A

Clinical Profile:

NIMH Control (NIMH ID 62731)

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 42900308
CNV End: 43214123
CNV Size: 313816
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ZDHHC4P1, LINC00400, DNAJC15, ENOX1, EPSTI1

engchuan_15_ASD_discovery_controls-controlB183075_1007853732

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: 42814156
CNV End: 42860632
CNV Size: 46476
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB337517_1007874370

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: 41838524
CNV End: 41998513
CNV Size: 159989
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-74P, KARSP1, VWA8-AS1, VWA8

engchuan_15_ASD_discovery_controls-controlB383984_1007874900

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: 42899979
CNV End: 43214041
CNV Size: 314062
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ZDHHC4P1, LINC00400, DNAJC15, ENOX1, EPSTI1

engchuan_15_ASD_discovery_controls-controlB413550_1007872281

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: 42897267
CNV End: 42950680
CNV Size: 53413
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ZDHHC4P1, EPSTI1

engchuan_15_ASD_discovery_controls-controlB562868_1007848470

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: 42847547
CNV End: 43025275
CNV Size: 177728
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ZDHHC4P1, DNAJC15, EPSTI1

engchuan_15_ASD_discovery_controls-controlB610949_1007846393

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: 43159439
CNV End: 43214041
CNV Size: 54602
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00400, ENOX1

engchuan_15_ASD_discovery_controls-controlB614568_1007871710

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: 40635099
CNV End: 40951450
CNV Size: 316350
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR320D1, MIR621, CYCSP34, SLC25A15, FOXO1, MRPS31, ELF1, TPTE2P5, SUGT1P3

engchuan_15_ASD_discovery_controls-controlB776821_1007846118

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: 43167710
CNV End: 43214041
CNV Size: 46331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB911786_1007854079

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: 43456830
CNV End: 43610697
CNV Size: 153867
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENOX1-AS2, ENOX1-AS1, ENOX1

engchuan_15_ASD_discovery_controls-controlB955457_1007875817

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: 41595944
CNV End: 41629438
CNV Size: 33494
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900150_900150

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: 43167710
CNV End: 43214041
CNV Size: 46331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900163_900163

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: 43157405
CNV End: 43363556
CNV Size: 206151
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00400, ENOX1

engchuan_15_ASD_discovery_controls-controlHABC_900705_900705

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: 42970828
CNV End: 43159439
CNV Size: 188611
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00400, DNAJC15, EPSTI1

engchuan_15_ASD_discovery_controls-controlHABC_900942_900942

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: 42842522
CNV End: 43269676
CNV Size: 427154
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00428, ZDHHC4P1, LINC00400, DNAJC15, ENOX1, EPSTI1
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