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9q31.1CNV Type: Deletion-Duplication


Largest CNV size: 670000 bp

Statistics Box:
Number of Reports: 20


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
NA
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 3803
 1
 0
 1
 bremer_11_ASD_discovery_cases
 223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
 223
 25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
 
 71.3% Male
 670000
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 684935
 8
 4
 12
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 97483
 3
 0
 3
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 673310
 1
 1
 2
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 2365000
 0
 2
 2
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 641950
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1574076
 1
 1
 2
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 414329
 0
 1
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 700000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 26439
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 90000
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 22173
 1
 0
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 114994
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 191204
 0
 1
 1
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 263390
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 436467
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 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)
 Mean, 9.1 yrs.
 86.1% Male
 134076
 35
 0
 35
 stobbe_13_ASD_discovery_cases
 Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
 36
 Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
 Range, 18-45 yrs. (mean 25.3 yrs.)
 77.78% Male
 202000
 1
 0
 1
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 41972
 1
 0
 1
 yin_16_ASD_discovery_cases
 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.
 335
 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).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 30877
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 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)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 294713
 8
 2
 10
 girirajan_13b_ASD_discovery_controls
 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)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 4101
 1
 0
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 26439
 1
 0
 1
 nord_11_ASD_discovery_controls
 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
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 13270
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 147002
 0
 2
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 216799
 37
 0
 37
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 41972
 N/A
 N/A
 N/A
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 30877
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 bremer_11_ASD_discovery_cases
  Swedish
 aCGH
  BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
 
 
 MLPA, FISH
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 None
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 No
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 stobbe_13_ASD_discovery_cases
  N/A
 aCGH
  NimbleGen CGX-3v1.0
 ADM-1
 NimbleScan 2.5, DNA Analytics 4.0
 None
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_cases-caseREACH000613
 N/A
 M
 ASD
 Case from REACH cohort
 
 105333952
 105337755
  3804
 GRCh38
 Deletion
 No
  bremer_11_ASD_discovery_cases-case32
 5
 M
 ASD
 Syndromic ASD, sporadic case
 MR (IQ<70)
 101670288
 102344369
  674082
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case14059_1020
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 102175831
 102217803
  41973
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16093_1571132001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 104920236
 105000085
  79850
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3521_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103574918
 104003038
  428121
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3546_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103001630
 103056178
  54549
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4074_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103001630
 103053033
  51404
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4320_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 102175831
 102217803
  41973
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4326_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 102542746
 102727254
  184509
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6316_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 102175831
 102217803
  41973
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6319_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 104118113
 104532441
  414329
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8007_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 102384124
 103069059
  684936
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8446_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103001630
 103056178
  54549
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8472_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100137357
 100184891
  47535
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1340303
 
 
 Autism
 
 
 102440579
 102501031
  60453
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1390301
 
 
 Autism
 
 
 103689472
 103786954
  97483
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1390302
 
 
 Autism
 
 
 103689472
 103786954
  97483
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU036403
 
 
 Autism
 
 
 104197853
 104871162
  673310
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU073704
 
 
 Autism
 
 
 104058901
 104151119
  92219
 Unknown
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11651.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 102947897
 103227897
  280001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13724.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 101437897
 103807898
  2370002
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-57105104492
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 103583658
 104225609
  641952
 GRCh38
 Duplication
 No
  krumm_15_ASD_discovery_cases-case13638.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 103003141
 103005678
  2538
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13724.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101430775
 103004851
  1574077
 GRCh38
 Duplication
 Yes
  leblond_12_ASD_replication_cases-Pintocase6319_3
 NA
 M
 PDD-NOS
 ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
 Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
 104118113
 104532441
  414329
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU036403
 N/A
 M
 ASD
 
 
 102395718
 103075718
  680001
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11076.p1
 NA
 M
 ASD
 NA
 NA
 102972244
 102998682
  26439
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown216
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 101141874
 101233083
  91210
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-270-1
 
 
 ASD
 
 
 105407738
 105429910
  22173
 Unknown
 Deletion
 No
  pfundt_16_nonNDD_discovery_cases-case92
 N/A
 N/A
 Non-NDD
 Disease cohort: mitochondrial oxidative phosphorylation disorder. Description: ALDOB deletion
 
 101420559
 101535553
  114995
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case00HI1663A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
 
 104504261
 104695464
  191204
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_366
 2 yrs.
 M
 Developmental delay
 Deficient intersubjectivity, ptosis, congenital heart disease
 Global developmental delay
 101716700
 101980089
  263390
 GRCh38
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case24137
 NA
 NA
 ASD
 NA
 NA
 105402119
 105838586
  436467
 Unknown
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11041.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
 104602140
 104605719
  3580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11115.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
 102702272
 102712102
  9831
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11118.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 104; verbal IQ, 77
 103616186
 103627405
  11220
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11172.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
 103612673
 103627405
  14733
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11249.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11305.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
 101900303
 101903795
  3493
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 104833924
 104834130
  207
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11400.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
 103001630
 103062940
  61311
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11407.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
 104311568
 104445644
  134077
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11458.p1
 16.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
 102469078
 102497435
  28358
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11475.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
 104602140
 104605719
  3580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11491.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11505.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
 104602140
 104613378
  11239
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11520.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57
 102199828
 102203581
  3754
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11523.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11563.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11569.p1
 9.1
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
 103631840
 103660576
  28737
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 104602140
 104605719
  3580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11721.p1
 4.8
 M
 ASD
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12033.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
 104833924
 104834130
  207
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12102.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
 104110401
 104151011
  40611
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 104602140
 104606401
  4262
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 104605719
 104613378
  7660
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12284.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 61
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 103342596
 103432168
  89573
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12578.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 81
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12588.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 105; verbal IQ, 108
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12604.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
 103638596
 103660576
  21981
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12685.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 99; verbal IQ, 102
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12829.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 134; verbal IQ, 117
 102972913
 102996195
  23283
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12902.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 114; verbal IQ, 123
 103638596
 103660576
  21981
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12941.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12979.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
 102518732
 102578059
  59328
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13051.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
 104721132
 104723296
  2165
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 102693142
 102712102
  18961
 GRCh38
 Deletion
 No
  stobbe_13_ASD_discovery_cases-case1
 22 yrs.
 M
 PDD/NOS
 Family history: 1 paternal uncle institutionalized at age of 3 years. Karyotype: not performed. Fragile X testing: normal.
 
 102895893
 103098298
  202406
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case8-14059-1020
 N/A
 M
 ASD
 N/A
 N/A
 102175831
 102217803
  41973
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case369
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 103123932
 103154808
  30877
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036014967_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102442330
  102474888
  32559
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036020568_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102175831
  102217803
  41973
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB326966_1007875802
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102950652
  103245365
  294714
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB466917_1007874508
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102175831
  102217803
  41973
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB631008_1007873717
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102595597
  102786670
  191074
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB944909_1007844028
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102495755
  102619782
  124028
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB958067_1007853927
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104941947
  105031207
  89261
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900945_900945
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102175831
  102217803
  41973
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901055_901055
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102175831
  102217803
  41973
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102778963
  102821644
  42682
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control13561.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  103001577
  103005678
  4102
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11076.s1
  NA
  M
  Control
  NA
  NA
  102972244
  102998682
  26439
  GRCh38
  Deletion
  No
  nord_11_ASD_discovery_controls-04C28230
 
 
  Control
 
 
  105416641
  105429910
  13270
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control04C31170A
  N/A
  F
  Control
  NIMH Control (NIMH ID 59702)
 
  101540201
  101687202
  147002
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C31170A
  N/A
  F
  Control
  NIMH Control (NIMH ID 59702)
 
  104788424
  104832773
  44350
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11041.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  104602140
  104605719
  3580
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  104602140
  104605719
  3580
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11101.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  104694482
  104782875
  88394
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11115.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  102702272
  102712102
  9831
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11141.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  102079697
  102165868
  86172
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11172.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  103616186
  103627405
  11220
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11401.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  99956581
  99979193
  22613
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11505.s1
  9.9
  F
  Control (matched sibling)
  NA
  NA
  104605719
  104613378
  7660
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11520.s1
  10.8
  M
  Control (matched sibling)
  NA
  NA
  102199828
  102203581
  3754
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11523.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11550.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  104602140
  104603689
  1550
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11569.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  103638596
  103660576
  21981
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11911.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12014.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12068.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  101900303
  101903795
  3493
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12113.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12113.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  103638596
  103660576
  21981
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  104602140
  104605719
  3580
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  104602140
  104605719
  3580
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12284.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12515.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12618.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  102520484
  102567478
  46995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12645.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12669.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  101829494
  102046293
  216800
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12708.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12829.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12902.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  103638596
  103660576
  21981
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12939.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  101094270
  101095183
  914
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12972.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  99847132
  99857173
  10042
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13035.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  104721132
  104723296
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13097.s1
  12.4
  F
  Control (matched sibling)
  NA
  NA
  104123051
  104136129
  13079
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13136.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  104602140
  104605719
  3580
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13166.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  104123051
  104151011
  27961
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13166.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  104602140
  104606401
  4262
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13222.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  102702272
  102712102
  9831
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseREACH000613
 Not available
 
 Paternal
 
 
 SLC44A1
 
 bremer_11_ASD_discovery_cases-case32
 MLPA, FISH
 
 Maternal
 NA
 NA
 MTND3P4,ARL2BPP7,RNU6-329P,GRIN3A
 
 engchuan_15_ASD_discovery_cases-case14059_1020
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case16093_1571132001
 
 
 Unknown
 
 
 ABCA1
 
 engchuan_15_ASD_discovery_cases-case3521_3
 
 
 Unknown
 
 
 RNA5SP291
 
 engchuan_15_ASD_discovery_cases-case3546_3
 
 
 Unknown
 
 
 CYLC2
 
 engchuan_15_ASD_discovery_cases-case4074_1
 
 
 Unknown
 
 
 CYLC2
 
 engchuan_15_ASD_discovery_cases-case4320_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4326_1
 
 
 Unknown
 
 
 ZYG11AP1,LINC00587
 
 engchuan_15_ASD_discovery_cases-case6316_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6319_3
 
 
 Unknown
 
 
 OR13F1,OR13C4,SMC2,TOPORSLP
 
 engchuan_15_ASD_discovery_cases-case8007_201
 
 
 Unknown
 
 
 ZYG11AP1,CYLC2,LINC00587
 
 engchuan_15_ASD_discovery_cases-case8446_201
 
 
 Unknown
 
 
 CYLC2
 
 engchuan_15_ASD_discovery_cases-case8472_201
 
 
 Unknown
 
 
 NANOGP5,INVS
 
 gai_11_ASD_discovery_cases-AU1340303
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1390301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1390302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU036403
 
 
 Inherited
 
 
 CYLC2
 
 gai_11_ASD_replication_cases-AU073704
 
 
 Inherited
 
 
 0 genes
 
 girirajan_13a_ASD_discovery_cases-11651.p1
 
 
 Unknown
 Simplex
 Unknown
 CYLC2,LINC01492
 
 girirajan_13a_ASD_discovery_cases-13724.p1
 
 
 Unknown
 Simplex
 Unknown
 TMEM246-AS1,PPP3R2,MTND3P4,ARL2BPP7,RNU6-329P,ZYG11AP1,RNA5SP291,ALDOB,TMEM246,RNF20,CYLC2,LINC00587,LINC01492,GRIN3A
 
 girirajan_13b_ASD_discovery_cases-57105104492
 
 
 Unknown
 Unknown
 Unknown
 RNA5SP291,SMC2-AS1,SMC2
 
 krumm_15_ASD_discovery_cases-case13638.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 CYLC2
 
 krumm_15_ASD_discovery_cases-case13724.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 TMEM246-AS1,PPP3R2,MTND3P4,ARL2BPP7,RNU6-329P,ZYG11AP1,ALDOB,TMEM246,RNF20,CYLC2,LINC00587,GRIN3A
 
 leblond_12_ASD_replication_cases-Pintocase6319_3
 
 
 Maternal
 
 
 OR13F1,OR13C4,SMC2,TOPORSLP
 
 leppa_16_ASD_discovery_cases-AU036403
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 ZYG11AP1,CYLC2,LINC00587
 
 levy_11_ASD_discovery_cases-11076.p1
 
 
 Maternal
 Simplex
 Not segregated
 CYLC2
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown216
 
 
 Paternal
 Unknown
 Unknown
 PLPPR1
 
 nord_11_ASD_discovery_cases-270-1
 
 
 Maternal
 
 
 0 genes
 
 pfundt_16_nonNDD_discovery_cases-case92
 
 
 
 
 
 TMEM246-AS1,ALDOB,TMEM246,RNF20
 
 poultney_13_ASD_discovery_cases-case00HI1663A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 OR13F1,OR13C4,OR13C3,OR13C8,OR13D2P,OR13C5,OR13C2,OR13C9,OR13I1P,OR13C1P,OR13D1
 
 quintela_17_DD/ID_discovery_cases-caseID_366
 
 
 Unknown
 
 Unknown
 MTND3P4,GRIN3A
 
 rosenfeld_10_ASD_discovery_cases-case24137
 FISH
 
 Maternal
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11041.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR13C2
 
 sanders_11_ASD_discovery_cases-11115.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11118.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11172.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11249.p1
 
 
 Maternal
 Simplex (trio)
 NA
 OR13D3P
 
 sanders_11_ASD_discovery_cases-11305.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Both parents
 Simplex (trio)
 NA
 ABCA1
 
 sanders_11_ASD_discovery_cases-11400.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYLC2
 
 sanders_11_ASD_discovery_cases-11407.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11458.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11475.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR13C2
 
 sanders_11_ASD_discovery_cases-11491.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR13D3P
 
 sanders_11_ASD_discovery_cases-11505.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR13C2
 
 sanders_11_ASD_discovery_cases-11520.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11523.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR13D3P
 
 sanders_11_ASD_discovery_cases-11563.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR13D3P
 
 sanders_11_ASD_discovery_cases-11569.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Unknown
 Simplex (trio)
 NA
 OR13C2
 
 sanders_11_ASD_discovery_cases-11721.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR13D3P
 
 sanders_11_ASD_discovery_cases-12033.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ABCA1
 
 sanders_11_ASD_discovery_cases-12102.p1
 
 
 Unknown
 Simplex (trio)
 NA
 SMC2
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 OR13C2
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12284.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR13D3P
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12578.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR13D3P
 
 sanders_11_ASD_discovery_cases-12588.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR13D3P
 
 sanders_11_ASD_discovery_cases-12604.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12685.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR13D3P
 
 sanders_11_ASD_discovery_cases-12829.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYLC2
 
 sanders_11_ASD_discovery_cases-12902.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12941.p1
 
 
 Maternal
 Simplex (trio)
 NA
 OR13D3P
 
 sanders_11_ASD_discovery_cases-12979.p1
 
 
 Unknown
 Simplex (trio)
 NA
 LINC00587
 
 sanders_11_ASD_discovery_cases-13051.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR13D3P
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 stobbe_13_ASD_discovery_cases-case1
 
 
 Unknown
 Unknown (possible simplex)
 Unknown
 CYLC2
 
 walker_13_ASD_discovery_cases-case8-14059-1020
 
 
 Unknown
 Simplex
 Unknown
 
 
 yin_16_ASD_discovery_cases-case369
 
 
 Unknown
 Unknown
 Unknown
 LINC01492
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036014967_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036020568_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB326966_1007875802
 
 
  Unknown
 
 
  CYLC2,LINC01492
 
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB631008_1007873717
 
 
  Unknown
 
 
  ZYG11AP1,LINC00587
 
engchuan_15_ASD_discovery_controls-controlB944909_1007844028
 
 
  Unknown
 
 
  ZYG11AP1,LINC00587
 
engchuan_15_ASD_discovery_controls-controlB958067_1007853927
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900945_900945
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901055_901055
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
 
 
  Unknown
 
 
 
 
krumm_15_ASD_discovery_controls-control13561.s1
  1M-Duov3
 
  Paternal
 
 
  CYLC2
 
levy_11_ASD_discovery_controls-11076.s1
 
 
  Maternal
  Simplex
  NA
  CYLC2
 
nord_11_ASD_discovery_controls-04C28230
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control04C31170A
 
 
  Unknown
 
 
  PPP3R2,RNF20,GRIN3A
 
poultney_13_ASD_discovery_controls-control04C31170A
 
 
  Unknown
 
 
  ABCA1
 
sanders_11_ASD_discovery_controls-11041.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR13C2
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13C2
 
sanders_11_ASD_discovery_controls-11101.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR13D1,OR13D3P,NIPSNAP3A,NIPSNAP3B,ABCA1
 
sanders_11_ASD_discovery_controls-11115.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11141.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11172.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11401.s1
 
 
  Paternal
  Simplex (quad)
  NA
  STX17,ERP44
 
sanders_11_ASD_discovery_controls-11505.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11520.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11523.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-11550.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11569.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-11911.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-12014.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-12068.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12113.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-12113.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR13C2
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR13C2
 
sanders_11_ASD_discovery_controls-12284.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-12515.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-12618.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC00587
 
sanders_11_ASD_discovery_controls-12645.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-12669.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12708.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-12829.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-12902.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12939.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PLPPR1
 
sanders_11_ASD_discovery_controls-12972.s1
 
 
  Unknown
  Simplex (quad)
  NA
  NR4A3
 
sanders_11_ASD_discovery_controls-13035.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13D3P
 
sanders_11_ASD_discovery_controls-13097.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SMC2
 
sanders_11_ASD_discovery_controls-13136.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13C2
 
sanders_11_ASD_discovery_controls-13166.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SMC2
 
sanders_11_ASD_discovery_controls-13166.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR13C2
 
sanders_11_ASD_discovery_controls-13222.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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