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9p23CNV Type: Deletion-Duplication


Largest CNV size: 666700 bp

Statistics Box:
Number of Reports: 28


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
NA
Duplication
NA
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
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
 9887
 1
 0
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 562356
 2
 0
 2
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 70551
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 521000
 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
 439963
 50
 7
 57
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 67698
 1
 0
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 139929
 0
 1
 1
 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
 
 
 369019
 10
 0
 10
 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
 
 
 56875
 8
 0
 8
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 99696
 1
 0
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 1916240
 0
 1
 1
 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
 547000
 1
 0
 1
 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
 370315
 2
 1
 3
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 792026
 1
 1
 2
 kousoulidou_13_ASD_discovery_cases
 Cypriot patients with ASD or autistic features
 50
 Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
 Range, 3-18 yrs.
 90% Male
 77790
 1
 0
 1
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 137454
 1
 0
 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
 600000
 3
 0
 3
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 36315
 2
 0
 2
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 300200
 2
 0
 2
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 85439
 2
 0
 2
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 135784
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 231564
 6
 0
 6
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 43408
 2
 0
 2
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 60663
 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
 
 
 256917
 1
 1
 2
 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
 306165
 100
 35
 135
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 130000
 2
 0
 2
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 666700
 5
 0
 5
 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
 114580
 2
 0
 2
 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
 31779
 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
 1099871
 73
 10
 83
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1916240
 NA
 NA
 NA
 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
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 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
 N/A
 N/A
 273896
 6
 0
 6
 kousoulidou_13_ASD_discovery_controls
 Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
 130
 Controls
 N/A
 N/A
 0
 0
 0
 0
 krumm_13_ASD_discovery_controls
 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)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 82030
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 82030
 1
 0
 1
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 137454
 1
 0
 1
 leppa_16_ASD_discovery_controls
 Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 572
 Control
 N/A
 N/A
 1100000
 0
 1
 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
 0
 0
 0
 0
 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.
 
 70672
 2
 0
 2
 prasad_12_ASD_discovery_controls
 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.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 43408
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 505965
 71
 26
 97
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 130000
 1
 0
 1
 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
 114580
 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
 31779
 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
 
 PCR, array SNP
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 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
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 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
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kousoulidou_13_ASD_discovery_cases
  Cyprus
 aCGH
  Agilent 400K custom array-CGH
 
 Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 qPCR
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 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
 
 aCGH (Agilent 244K)
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 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
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 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
 
 
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 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_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  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
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  kousoulidou_13_ASD_discovery_controls
  Cyprus
  aCGH
  Agilent 400K custom array-CGH
 
  Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 
  krumm_13_ASD_discovery_controls
  N/A
  WES
  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)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  leppa_16_ASD_discovery_controls
  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_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
  Affymetrix ChAS
  None
  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-caseSSC00181
 N/A
 M
 ASD
 Case from SSC cohort
 
 13306879
 13316766
  9888
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-caseAU3724301
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 10554016
 11116371
  562356
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseAU3724302
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 10554016
 11116371
  562356
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU027505
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: micropthalmia
 
 11481500
 11552051
  70551
 Unknown
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299801
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 10060015
 10581502
  521488
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1171_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11487579
 11651144
  163566
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13022_293
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11649257
 11935261
  286005
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14032_600
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9708107
 9756868
  48762
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14074_1280
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11116389
 11350491
  234103
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14215_3460
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11316481
 11529226
  212746
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14249_3730
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12099364
 12470048
  370685
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14343_4570
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12131415
 12165806
  34392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16039_1571028001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11963439
 12035563
  72125
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case17015_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11649257
 11935261
  286005
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18145_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11974458
 12022175
  47718
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case21047_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11630528
 11677252
  46725
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2172_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12476727
 12553642
  76916
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2184_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11444251
 11552356
  108106
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2197_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11774095
 11905556
  131462
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2203_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12176780
 12229877
  53098
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2211_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13859988
 13921789
  61802
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3018_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12143626
 12400136
  256511
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3053_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12003252
 12042535
  39284
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3093_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9831068
 9945648
  114581
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3110_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12185037
 12229877
  44841
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3253_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11946421
 12042535
  96115
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3268_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11630528
 11676909
  46382
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3269_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11796032
 12185185
  389154
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3441_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9572790
 9609283
  36494
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3465_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11630528
 11677252
  46725
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3479_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11990769
 12124410
  133642
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3485_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 10940127
 11024400
  84274
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3571_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11630528
 11677252
  46725
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4008_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9572790
 9609283
  36494
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4043_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12234642
 12537279
  302638
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4220_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11995297
 12054659
  59363
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4306_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11995297
 12124410
  129114
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4324_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12003252
 12042535
  39284
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4380_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12300716
 12457384
  156669
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4412_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11630528
 11676909
  46382
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4460_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11903938
 12042535
  138598
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4505_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 10941408
 11024400
  82993
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5246_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9770741
 9860872
  90132
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5315_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11838399
 12054659
  216261
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5366_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9995938
 10030458
  34521
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5407_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11929890
 12061324
  131435
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5466_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9525707
 9609283
  83577
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5521_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12131415
 12202003
  70589
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6033_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11903938
 12187104
  283167
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6105_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 10649385
 10688795
  39411
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6246_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9409606
 9641169
  231564
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case6351_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12015741
 12162866
  147126
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8405_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11995297
 12124410
  129114
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8423_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 10975456
 11009397
  33942
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8439_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12018371
 12065089
  46719
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8550_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11830879
 12179991
  349113
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8602_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11630528
 11677252
  46725
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8634_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11995297
 12124410
  129114
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8656_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11725843
 12165806
  439964
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8699_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11903938
 11937390
  33453
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8703_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 10432920
 10501953
  69034
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8713_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11905556
 11937390
  31835
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0028220
 N/A
 M
 ASD
 
 
 14088197
 14155894
  67698
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000049
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S56
 N/A
 13306688
 13446617
  139930
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU0997301
 
 
 Autism
 
 
 12300716
 12457384
  156669
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU0997302
 
 
 Autism
 
 
 12300716
 12457384
  156669
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1300301
 
 
 Autism
 
 
 10134584
 10289084
  154501
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1300301
 
 
 Autism
 
 
 9740139
 10109157
  369019
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1300302
 
 
 Autism
 
 
 10134584
 10289084
  154501
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1300302
 
 
 Autism
 
 
 9740139
 10109157
  369019
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1300303
 
 
 Autism
 
 
 10135099
 10289084
  153986
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1300303
 
 
 Autism
 
 
 9740139
 10109157
  369019
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1544304
 
 
 Autism
 
 
 12338492
 12372539
  34048
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1731304
 
 
 Autism
 
 
 9777587
 9809028
  31442
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU069603
 
 
 Autism
 
 
 10639385
 10676202
  36818
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU070003
 
 
 Autism
 
 
 9883002
 9903373
  20372
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU070004
 
 
 Autism
 
 
 9883002
 9905186
  22185
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU070005
 
 
 Autism
 
 
 9883002
 9903373
  20372
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU081803
 
 
 Autism
 
 
 11869832
 11926706
  56875
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU1078302
 
 
 Autism
 
 
 12842462
 12876899
  34438
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU1135202
 
 
 Autism
 
 
 9914724
 9947866
  33143
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU1135203
 
 
 Autism
 
 
 9914724
 9947866
  33143
 Unknown
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case576-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 9473063
 9572759
  99697
 GRCh38
 Deletion
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case32825
 18 yrs.
 M
 ASD
 Severely limited expressive language. Behavioral problems: autism, ADHD, anxiety. Mild hypotonia. Focal epilepsy. Mild asymmetry of hippocampi, small gliosis in frontal lobe, absence of neural hypophysis. Nondysmorphic. Other features: delayed puberty. Growth parameters: short stature. Noncontributory family history.
 Developmental delay
 10115547
 12031787
  1916241
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-AU1300302
 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
 9750000
 10300000
  550001
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-21105103264
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 11979759
 12350074
  370316
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-55704100868
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 11979759
 12350074
  370316
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-57804101558
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 10832306
 11134639
  302334
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000896
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 10648009
 11435662
  787654
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001217
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 10381123
 11173149
  792027
 GRCh38
 Duplication
 Yes
  kousoulidou_13_ASD_discovery_cases-patient9
 N/A
 M
 ASD
 ASD
 
 9608565
 9701922
  93358
 GRCh38
 Deletion
 Yes
  larson_17_ASD_discovery_cases-case59
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 9444456
 9581910
  137455
 GRCh38
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU1300302
 N/A
 F
 ASD
 
 
 9737000
 10316000
  579001
 GRCh38
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU3724301
 N/A
 M
 ASD
 
 
 10554000
 11117000
  563001
 GRCh38
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU3724302
 N/A
 M
 ASD
 
 
 10554000
 11117000
  563001
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11179.p1
 NA
 M
 ASD
 NA
 NA
 9572406
 9608720
  36315
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11348.p1
 NA
 M
 ASD
 NA
 NA
 13301056
 13320258
  19203
 GRCh38
 Deletion
 Yes
  morrow_08_ASD_discovery_cases-case1802
 NA
 
 ASD
 NA
 NA
 11987000
 12026000
  38900
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case7401
 NA
 
 ASD
 NA
 NA
 11726000
 12026000
  300200
 Unknown
 Deletion
 No
  mosca_16_DCD_discovery_cases-case111203
 N/A
 F
 DCD/ADHD
 Ancestry: European. Family history: maternal diagnosis DCD and reading disorder; paternal diagnosis unknown.
 
 13893628
 13979066
  85439
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case127603
 N/A
 F
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 9843265
 9864454
  21190
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-277-1
 
 
 ASD
 
 
 9552321
 9688104
  135784
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1171_5
 NA
 M
 ASD
 NA
 NA
 11487579
 11651144
  163566
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5315_3
 NA
 M
 ASD
 NA
 NA
 11838399
 12054659
  216261
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5366_5
 NA
 M
 ASD
 NA
 NA
 9995938
 10030458
  34521
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5407_3
 NA
 M
 ASD
 NA
 NA
 11929890
 12061324
  131435
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5466_3
 NA
 M
 ASD
 NA
 NA
 9525707
 9609283
  83577
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case6246_4
 NA
 M
 Autism
 No language delay, neonatal hypotonia, marfanoid habitus, arachnodactylia
 Mild MR
 9409606
 9641169
  231564
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case110947
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 9561455
 9597757
  36303
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case89137
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 9984438
 10027845
  43408
 Unknown
 Deletion
 No
  qiao_12_ASD_discovery_cases-case10-93A
 NA
 NA
 ASD and/or ID
 NA
 NA
 9238925
 9299588
  60663
 Unknown
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case22365
 NA
 NA
 ASD
 NA
 NA
 9839207
 10096124
  256917
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case22960
 NA
 NA
 ASD
 NA
 NA
 9839207
 10096124
  256917
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11023.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 110; verbal IQ, 110
 12581270
 12619335
  38066
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11031.p1
 13.8
 M
 Aspergers
 NA
 Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11032.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
 11995297
 12168247
  172951
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11037.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11047.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11054.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 84
 11630528
 11676909
  46382
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11056.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62
 11408647
 11414180
  5534
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13.9
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 10314941
 10323818
  8878
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11080.p1
 5.1
 F
 ASD
 NA
 Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
 11946421
 12003252
  56832
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11085.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
 11569739
 11649257
  79519
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11122.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
 10463098
 10505161
  42064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11133.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11168.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
 11408647
 11408865
  219
 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
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11179.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
 9568591
 9620141
  51551
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11218.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11224.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11229.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
 9851382
 9863227
  11846
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11246.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11247.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11252.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
 11155468
 11159953
  4486
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11291.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
 10225500
 10247217
  21718
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11294.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
 11946421
 12020873
  74453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11316.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 45; verbal IQ, 21
 13315467
 13330234
  14768
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11323.p1
 8.6
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
 11647509
 11935261
  287753
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11360.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11365.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
 9794527
 9819028
  24502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11365.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
 10314941
 10323818
  8878
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11378.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11396.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
 11892790
 12084080
  191291
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11429.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
 11857464
 12154939
  297476
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11453.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
 11827014
 12078499
  251486
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11465.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 73; verbal IQ, 95
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11480.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11494.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11532.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
 11676507
 11738476
  61970
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 9796116
 9852100
  55985
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11543.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11544.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
 10315723
 10323818
  8096
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11546.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 123; verbal IQ, 100
 11869293
 11880552
  11260
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11554.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11561.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
 9588157
 9591059
  2903
 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
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11600.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11610.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11659.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11666.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
 11995297
 12124410
  129114
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11666.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11667.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 56; verbal IQ, 51
 9798092
 9829018
  30927
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11685.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 96; verbal IQ, 104
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11689.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 87; verbal IQ, 107
 13485036
 13504925
  19890
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11689.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 87; verbal IQ, 107
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11696.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
 11408647
 11408865
  219
 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
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11724.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11731.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11734.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11766.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 96
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11773.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11792.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11810.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
 11408647
 11414180
  5534
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11811.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11831.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 110
 11408647
 11414180
  5534
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11881.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 90; verbal IQ, 89
 11641257
 11677252
  35996
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11897.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
 9798092
 9830675
  32584
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11920.p1
 10.8
 M
 Aspergers
 NA
 Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11942.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
 11621204
 11700487
  79284
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11946.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11947.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11954.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 62; verbal IQ, 79
 12022175
 12165072
  142898
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11966.p1
 13.2
 M
 Autism
 NA
 Full-scale IQ, 32; non-verbal IQ, 35; verbal IQ, 26
 12185037
 12237417
  52381
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11978.p1
 9.1
 F
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
 13345643
 13365908
  20266
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11979.p1
 7.5
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
 11402634
 11408865
  6232
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11993.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 73
 11995297
 12133321
  138025
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11996.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12020.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
 11408647
 11414180
  5534
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12031.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12044.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12073.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
 11590844
 11643678
  52835
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12078.p1
 9.2
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12096.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12106.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12154.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12173.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12189.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12202.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12224.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
 12581270
 12624357
  43088
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12228.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12233.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 11408647
 11414180
  5534
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 11995297
 12124410
  129114
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 10447115
 10452374
  5260
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12337.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
 11937390
 12007658
  70269
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12377.p1
 17.8
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 67; verbal IQ, 93
 11860446
 11996231
  135786
 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
 11155468
 11159953
  4486
 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
 10314941
 10323818
  8878
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12381.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12440.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 11630528
 11683392
  52865
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12451.p1
 9.6
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12462.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
 12120085
 12194411
  74327
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12477.p1
 14.1
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12480.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
 11923712
 12229877
  306166
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12494.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
 14025102
 14026511
  1410
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12499.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
 10660729
 10688795
  28067
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12505.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12515.p1
 6.3
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12603.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
 11408647
 11418394
  9748
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12605.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 120; non-verbal IQ, 108; verbal IQ, 136
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12619.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12630.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 115; verbal IQ, 134
 11408647
 11408865
  219
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12651.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12661.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
 11967114
 12013711
  46598
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12670.p1
 10.5
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 11913010
 12044372
  131363
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12704.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 106
 11753695
 11775361
  21667
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12787.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
 11774095
 11799681
  25587
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12817.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
 10660729
 10688795
  28067
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12864.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
 11408647
 11419061
  10415
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12864.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
 11847376
 11861962
  14587
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12888.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
 12185037
 12234969
  49933
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12892.p1
 6.3
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
 11003940
 11012562
  8623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12939.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
 11936706
 11970659
  33954
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13014.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
 10314941
 10323818
  8878
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13019.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13033.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13035.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 11408647
 11418394
  9748
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13042.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
 11408647
 11408865
  219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13195.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
 9798092
 9831068
  32977
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13196.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95
 11995297
 12124410
  129114
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13304.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
 11630528
 11677252
  46725
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13324.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
 11985139
 12124410
  139272
 GRCh38
 Deletion
 No
  soueid_16_ASD_discovery_cases-caseBAK43
 N/A
 N/A
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 12000099
 12127088
  126990
 GRCh38
 Deletion
 No
  soueid_16_ASD_discovery_cases-caseLAS11
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 11994297
 12124344
  130048
 GRCh38
 Deletion
 No
  szatmari_07_ASD_discovery_cases-NAAR002-G12-8045-101
 NA
 
 ASD
 NA
 NA
 12020900
 12287900
  267001
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR041-F10-00C04574
 NA
 
 ASD
 NA
 NA
 11621200
 12287900
  666701
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR041-F12-00C04583
 NA
 
 ASD
 NA
 NA
 11621200
 12287900
  666701
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR052-H6-HI1012
 NA
 
 ASD
 NA
 NA
 12020900
 12287900
  267001
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR071-H9-HI1766
 NA
 
 ASD
 NA
 NA
 12020900
 12287900
  267001
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case8-14032-600
 N/A
 M
 ASD
 N/A
 N/A
 9708107
 9756868
  48762
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case8-3093-004
 N/A
 M
 ASD
 N/A
 N/A
 9831068
 9945648
  114581
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case343
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 10145099
 10176877
  31779
 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-control110036001469_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11891381
  11948271
  56891
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036001469_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11798994
  11860446
  61453
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036003051_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11338556
  11396601
  58046
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036019198_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11857464
  11937390
  79927
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036019495_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10656930
  10688795
  31866
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036023067_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12020873
  12115049
  94177
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036023489_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10656930
  10688795
  31866
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036024602_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11929890
  12061324
  131435
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB130957_1007853859
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11929890
  12061324
  131435
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB263027_1007875546
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12010374
  12042535
  32162
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB263027_1007875546
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11929890
  11996231
  66342
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB309173_1007854770
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11913010
  12065319
  152310
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB333186_1007871685
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11967114
  12022175
  55062
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB334576_1007843533
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11734433
  12078499
  344067
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB376454_1007872131
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12124410
  129114
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB391827_1007840228
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13570729
  13631993
  61265
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB408801_1007840263
  N/A
  N/A
  Control
  No previous psychiatric history
 
  9553037
  9693867
  140831
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB419403_1007872303
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11892790
  12071175
  178386
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB466161_1007840573
  N/A
  N/A
  Control
  No previous psychiatric history
 
  9924724
  9960537
  35814
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB466161_1007840573
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11969789
  12381912
  412124
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB477363_0067942596
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12005889
  12162866
  156978
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB489094_1007876037
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12124410
  129114
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB519248_1007840750
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11857464
  11937390
  79927
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB555308_1007853571
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12085717
  90421
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB557049_1007853857
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11913010
  12013711
  100702
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB611425_1007873622
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12124410
  129114
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB614872_1007874936
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11676909
  46382
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB624090_1007853967
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11796032
  11985139
  189108
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB653776_1007846516
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12340857
  13440729
  1099873
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB659155_1007854741
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11676909
  46382
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB665259_1007853930
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11444251
  11552356
  108106
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB682015_1007872283
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12176780
  12220126
  43347
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB701542_1007873365
  N/A
  N/A
  Control
  No previous psychiatric history
 
  9718066
  9832245
  114180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB742876_1007852892
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10647333
  10688795
  41463
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB764282_1007872174
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11676909
  46382
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB771507_1007873325
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10660729
  10690768
  30040
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB774741_1007854360
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11676909
  46382
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB787931_1007853911
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11915692
  11953279
  37588
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB817828_0057061026
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11676909
  46382
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB861253_1007875976
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11825229
  11996231
  171003
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB898827_1007870349
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11669949
  11726567
  56619
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB907712_1007852916
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12106505
  111209
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB926040_1007875245
  N/A
  N/A
  Control
  No previous psychiatric history
 
  9796116
  9855408
  59293
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB967654_1007872241
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10941408
  11024400
  82993
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB972811_0067949224
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12124410
  129114
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB977307_1007842455
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11676909
  46382
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB978910_1007853764
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12124410
  129114
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB991945_1007873310
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11929890
  12133321
  203432
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900100_900100
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12124410
  129114
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900197_900197
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11677252
  46725
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900223_900223
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11787410
  11840010
  52601
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900273_900273
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11647509
  11937390
  289882
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900277_900277
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11677252
  46725
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900336_900336
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11860446
  11915692
  55247
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900347_900347
  N/A
  N/A
  Control
  No previous psychiatric history
 
  9011209
  10047844
  1036636
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900366_900366
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10649660
  10688795
  39136
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900454_900454
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11903938
  11937390
  33453
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900460_900460
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11677252
  46725
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900510_900510
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12381912
  12460256
  78345
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900511_900511
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13309614
  13339622
  30009
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900830_900830
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12435710
  12499211
  63502
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12007658
  12051998
  44341
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900912_900912
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11606128
  11716862
  110735
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900966_900966
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10547403
  10595208
  47806
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901012_901012
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12124410
  129114
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901022_901022
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11647509
  11935261
  287753
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901060_901060
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12022175
  12162866
  140692
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11677252
  46725
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901139_901139
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12042535
  12288920
  246386
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901194_901194
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12246667
  12576604
  329938
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901235_901235
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13300368
  13339622
  39255
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902426_902426
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12115049
  119753
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902525_902525
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12022175
  12162866
  140692
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902544_902544
  N/A
  N/A
  Control
  No previous psychiatric history
 
  9718066
  9832245
  114180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902555_902555
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11857464
  12150471
  293008
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902592_902592
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11774095
  11905556
  131462
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902599_902599
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11977779
  12085717
  107939
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902644_902644
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11647509
  11935261
  287753
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902727_902727
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11898744
  12154939
  256196
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902820_902820
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11630528
  11677252
  46725
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902839_902839
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11840010
  12224275
  384266
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902862_902862
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12124410
  129114
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902893_902893
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11995297
  12131415
  136119
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1308
  N/A
  N/A
  Control
  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
 
  11929890
  11960277
  30388
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1502
  N/A
  N/A
  Control
  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
 
  11656743
  11930638
  273896
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split386
  N/A
  N/A
  Control
  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
 
  10663815
  10686202
  22388
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split436
  N/A
  N/A
  Control
  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
 
  11929890
  12061324
  131435
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split660
  N/A
  N/A
  Control
  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
 
  12003252
  12112566
  109315
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split743
  N/A
  N/A
  Control
  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
 
  12003252
  12112566
  109315
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12512.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12512. SRS score of 38.
 
  12693996
  12776027
  82032
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control12512.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  12693996
  12776027
  82032
  GRCh38
  Deletion
  Yes
  leppa_16_ASD_discovery_controls-AU001705
  N/A
  F
  Control
  Unaffected sibling
 
  12343000
  13441001
  1098002
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27962
 
 
  Control
 
 
  13898585
  13911724
  13140
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28292
 
 
  Control
 
 
  13846600
  13917271
  70672
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11023.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  12581270
  12619335
  38066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11029.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11032.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  11995297
  12168247
  172951
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11067.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11071.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  10314941
  10323818
  8878
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11085.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  11569739
  11647509
  77771
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  11936706
  11952796
  16091
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11114.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11141.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  12078499
  12185037
  106539
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  11903938
  12162866
  258929
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11167.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11178.s1
  5.1
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11198.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11229.s1
  6.1
  M
  Control (matched sibling)
  NA
  NA
  9851382
  9863227
  11846
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11.9
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11414180
  5534
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11291.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  10225500
  10254793
  29294
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11309.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  10314941
  10323818
  8878
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11321.s1
  15.2
  F
  Control (matched sibling)
  NA
  NA
  12176780
  12178984
  2205
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11323.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  11647509
  11946421
  298913
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11329.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  12143626
  12148057
  4432
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11345.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  12156819
  12185185
  28367
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11359.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11396.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  11893047
  12071175
  178129
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11399.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11425.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  11155468
  11165707
  10240
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11494.s1
  19.3
  M
  Control (matched sibling)
  NA
  NA
  11643678
  11677252
  33575
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11532.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  11676507
  11738476
  61970
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11537.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11537.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  9798666
  9831068
  32403
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11543.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11546.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  11869293
  11880552
  11260
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11549.s1
  21.9
  F
  Control (matched sibling)
  NA
  NA
  11934556
  11952796
  18241
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8.9
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11419061
  10415
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11578.s1
  10.8
  M
  Control (matched sibling)
  NA
  NA
  11630528
  11695108
  64581
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11587.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  11830879
  12165072
  334194
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11600.s1
  19.2
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11601.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  11946421
  12452386
  505966
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11616.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11641.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  10314941
  10323818
  8878
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11667.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  9798666
  9829018
  30353
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11711.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11721.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11723.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11731.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11766.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  11985139
  12115049
  129911
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11768.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11827.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11857.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11879.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11895.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11897.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  9798092
  9830675
  32584
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11942.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  11624503
  11700487
  75985
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  12022175
  12162866
  140692
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11954.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  12022175
  12165072
  142898
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11964.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11986.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  11995297
  12275319
  280023
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11993.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11418394
  9748
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12006.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  11951983
  11967114
  15132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12037.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  11869293
  11948271
  78979
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  11656743
  11660139
  3397
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  11590844
  11645495
  54652
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12130.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12198.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12224.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  12581270
  12622878
  41609
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12255.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  12706236
  12740907
  34672
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12284.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12317.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12331.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12334.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  10660729
  10688795
  28067
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12337.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11414180
  5534
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12376.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12377.s1
  20.6
  F
  Control (matched sibling)
  NA
  NA
  11860446
  12005070
  144625
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12396.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12440.s1
  5.1
  F
  Control (matched sibling)
  NA
  NA
  12106505
  12124410
  17906
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12440.s1
  5.1
  F
  Control (matched sibling)
  NA
  NA
  11630528
  11677252
  46725
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12451.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11414180
  5534
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12462.s1
  20.8
  F
  Control (matched sibling)
  NA
  NA
  12120085
  12194411
  74327
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12469.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12494.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  14025102
  14026184
  1083
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12499.s1
  9.4
  M
  Control (matched sibling)
  NA
  NA
  10660729
  10688795
  28067
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12512.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  12641987
  12818456
  176470
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12536.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  12018371
  12067552
  49182
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12598.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11419061
  10415
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12651.s1
  15.8
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12664.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11408865
  219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12749.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  11408647
  11414180
  5534
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12780.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  11408647
  11418394
  9748
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12787.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  11774095
  11799681
  25587
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12864.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  11847376
  11861962
  14587
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  12185037
  12234969
  49933
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12939.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  11936706
  11970659
  33954
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12964.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  12022175
  12096410
  74236
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  13887477
  13908392
  20916
  GRCh38
  Deletion
  No
  soueid_16_ASD_discovery_controls-control9
  N/A
  N/A
  Control
 
 
  N/A
  N/A
  130000
  GRCh37
  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-caseSSC00181
 SNP VCF
 
 De novo
 
 
 
 
 brandler_18_ASD_replication_cases-caseAU3724301
 No validation step reported
 
 Maternal
 
 
 AKAP8P1,IMP3P1,PTPRD-AS2,PTPRD
 
 brandler_18_ASD_replication_cases-caseAU3724302
 No validation step reported
 
 Maternal
 
 
 AKAP8P1,IMP3P1,PTPRD-AS2,PTPRD
 
 davis_09_ASD_discovery_cases-AU027505
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299801
 
 
 Paternal
 
 
 PTPRD
 
 engchuan_15_ASD_discovery_cases-case1171_5
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13022_293
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14032_600
 
 
 Unknown
 
 
 PTPRD
 
 engchuan_15_ASD_discovery_cases-case14074_1280
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14215_3460
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14249_3730
 
 
 Unknown
 
 
 RNU2-47P,JKAMPP1
 
 engchuan_15_ASD_discovery_cases-case14343_4570
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case16039_1571028001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case17015_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case18145_301
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case21047_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case2172_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case2184_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case2197_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case2203_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case2211_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3018_3
 
 
 Unknown
 
 
 RNU2-47P,JKAMPP1
 
 engchuan_15_ASD_discovery_cases-case3053_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3093_4
 
 
 Unknown
 
 
 PTPRD
 
 engchuan_15_ASD_discovery_cases-case3110_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3253_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3268_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3269_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3441_3
 
 
 Unknown
 
 
 PTPRD
 
 engchuan_15_ASD_discovery_cases-case3465_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3479_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3485_3
 
 
 Unknown
 
 
 AKAP8P1
 
 engchuan_15_ASD_discovery_cases-case3571_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4008_1
 
 
 Unknown
 
 
 PTPRD
 
 engchuan_15_ASD_discovery_cases-case4043_1
 
 
 Unknown
 
 
 RNU2-47P,JKAMPP1
 
 engchuan_15_ASD_discovery_cases-case4220_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4306_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4324_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4380_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4412_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4460_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4505_1
 
 
 Unknown
 
 
 AKAP8P1
 
 engchuan_15_ASD_discovery_cases-case5246_3
 
 
 Unknown
 
 
 PTPRD
 
 engchuan_15_ASD_discovery_cases-case5315_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5366_5
 
 
 Unknown
 
 
 PTPRD
 
 engchuan_15_ASD_discovery_cases-case5407_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5466_3
 
 
 Unknown
 
 
 PTPRD
 
 engchuan_15_ASD_discovery_cases-case5521_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6033_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6105_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6246_4
 
 
 De novo
 
 
 RN7SL5P,PTPRD
 
 engchuan_15_ASD_discovery_cases-case6351_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8405_202
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8423_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8439_202
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8550_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8602_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8634_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8656_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8699_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8703_201
 
 
 Unknown
 
 
 PTPRD
 
 engchuan_15_ASD_discovery_cases-case8713_201
 
 
 Unknown
 
 
 
 
 feliciano_19_ASD_discovery_cases-caseSP0028220
 
 
 De novo
 
 
 NFIB
 null
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000049
 
 
 De novo
 Unknown
 Unknown
 LINC01235
 
 gai_11_ASD_discovery_cases-AU0997301
 
 
 Inherited
 
 
 
 
 gai_11_ASD_discovery_cases-AU0997302
 
 
 Inherited
 
 
 
 
 gai_11_ASD_discovery_cases-AU1300301
 
 
 Inherited
 
 
 PTPRD (intronic)
 
 gai_11_ASD_discovery_cases-AU1300301
 
 
 Inherited
 
 
 PTPRD
 
 gai_11_ASD_discovery_cases-AU1300302
 
 
 Inherited
 
 
 PTPRD (intronic)
 
 gai_11_ASD_discovery_cases-AU1300302
 
 
 Inherited
 
 
 PTPRD
 
 gai_11_ASD_discovery_cases-AU1300303
 
 
 Inherited
 
 
 PTPRD (intronic)
 
 gai_11_ASD_discovery_cases-AU1300303
 
 
 Inherited
 
 
 PTPRD
 
 gai_11_ASD_discovery_cases-AU1544304
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1731304
 
 
 Inherited
 
 
 PTPRD (intronic)
 
 gai_11_ASD_replication_cases-AU069603
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU070003
 
 
 Inherited
 
 
 PTPRD (intronic)
 
 gai_11_ASD_replication_cases-AU070004
 
 
 Inherited
 
 
 PTPRD (intronic)
 
 gai_11_ASD_replication_cases-AU070005
 
 
 Inherited
 
 
 PTPRD (intronic)
 
 gai_11_ASD_replication_cases-AU081803
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU1078302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU1135202
 
 
 Inherited
 
 
 PTPRD
 
 gai_11_ASD_replication_cases-AU1135203
 
 
 Inherited
 
 
 PTPRD
 
 gazzellone_14_ASD_discovery_cases-case576-3
 
 
 Unknown
 Unknown
 Unknown
 PTPRD
 
 girirajan_12_ASD/DD/ID_discovery_cases-case32825
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 AKAP8P1,IMP3P1,PTPRD-AS2,PTPRD
 
 girirajan_13a_ASD_discovery_cases-AU1300302
 
 
 Unknown
 Multiplex
 Unknown
 PTPRD
 
 girirajan_13b_ASD_discovery_cases-21105103264
 
 
 Unknown
 Unknown
 Unknown
 RNU2-47P,JKAMPP1
 
 girirajan_13b_ASD_discovery_cases-55704100868
 
 
 Unknown
 Unknown
 Unknown
 RNU2-47P,JKAMPP1
 
 girirajan_13b_ASD_discovery_cases-57804101558
 
 
 Unknown
 Unknown
 Unknown
 AKAP8P1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000896
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 AKAP8P1,IMP3P1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001217
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 AKAP8P1,IMP3P1,PTPRD-AS2,PTPRD
 
 kousoulidou_13_ASD_discovery_cases-patient9
 qPCR
 
 Paternal
 Unknown
 Unknown
 PTPRD
 
 larson_17_ASD_discovery_cases-case59
 
 
 Unknown
 
 Unknown
 PTPRD
 
 leppa_16_ASD_discovery_cases-AU1300302
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 PTPRD
 
 leppa_16_ASD_discovery_cases-AU3724301
 
 
 Maternal
 Multiplex
 Segregated (CNV present in both affected siblings)
 AKAP8P1,IMP3P1,PTPRD-AS2,PTPRD
 
 leppa_16_ASD_discovery_cases-AU3724302
 
 
 Maternal
 Multiplex
 Segregated (CNV present in both affected siblings)
 AKAP8P1,IMP3P1,PTPRD-AS2,PTPRD
 
 levy_11_ASD_discovery_cases-11179.p1
 
 
 Paternal
 Simplex
 Possibly segregated
 PTPRD
 
 levy_11_ASD_discovery_cases-11348.p1
 aCGH (Agilent 244K)
 
 De novo
 Simplex
 Segregated
 
 
 morrow_08_ASD_discovery_cases-case1802
 
 
 Maternal
 NA
 NA
 0 genes
 
 morrow_08_ASD_discovery_cases-case7401
 
 
 Paternal
 Multiplex (sib with PDD)
 Segregated
 5' end of TYRP1
 
 mosca_16_DCD_discovery_cases-case111203
 
 
 Unknown
 Multi-generational
 Unknown
 LINC00583
 
 mosca_16_DCD_discovery_cases-case127603
 
 
 Unknown
 Unknown
 Unknown
 PTPRD
 
 nord_11_ASD_discovery_cases-277-1
 
 
 Paternal
 
 
 PTPRD
 
 pinto_10_ASD_discovery_cases-case1171_5
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5315_3
 Agilent1M
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5366_5
 Agilent1M
 
 paternal
 NA
 NA
 PTPRD
 
 pinto_10_ASD_discovery_cases-case5407_3
 Agilent1M
 
 paternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5466_3
 Agilent1M
 
 maternal
 NA
 NA
 PTPRD
 
 pinto_10_ASD_discovery_cases-case6246_4
 qPCR-Denovo
 
 De novo
 Simplex
 NA
 RN7SL5P,PTPRD
 
 prasad_12_ASD_discovery_cases-case110947
 
 
 Unknown
 Unknown
 Unknown
 PTPRD
 
 prasad_12_ASD_discovery_cases-case89137
 
 
 Unknown
 Unknown
 Unknown
 PTPRD
 
 qiao_12_ASD_discovery_cases-case10-93A
 
 
 Unknown
 Unknown
 Unknown
 PTPRD
 
 rosenfeld_10_ASD_discovery_cases-case22365
 FISH
 
 Paternal
 Unknown
 Unknown
 PTPRD
 
 rosenfeld_10_ASD_discovery_cases-case22960
 FISH
 
 Maternal
 Unknown
 Unknown
 PTPRD
 
 sanders_11_ASD_discovery_cases-11023.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11031.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11032.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11037.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11047.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11054.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11056.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11080.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11085.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11122.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PTPRD
 
 sanders_11_ASD_discovery_cases-11133.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11172.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11179.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11218.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11224.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11229.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11246.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11247.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11252.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11291.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11294.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11316.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11323.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11360.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11365.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11365.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11378.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11396.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11429.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11453.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11465.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11480.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11494.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11532.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11543.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11544.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11546.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11554.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11561.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11563.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11600.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11610.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11659.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11666.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11666.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11667.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11685.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11689.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11689.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11696.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11721.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11724.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11731.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11734.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11766.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11773.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11792.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11810.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11811.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11831.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11881.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11897.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-11920.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11942.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11946.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11947.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11954.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11966.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11978.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11979.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11993.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11996.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12020.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12031.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12044.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12078.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12096.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12106.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12154.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12173.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12189.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12202.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12224.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12228.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12261.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Maternal
 Simplex (trio)
 NA
 PTPRD
 
 sanders_11_ASD_discovery_cases-12337.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12377.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PTPRD
 
 sanders_11_ASD_discovery_cases-12381.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12440.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12451.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12462.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12477.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12480.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12494.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12499.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12505.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12515.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12603.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12605.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12619.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12630.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12651.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12661.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12670.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12704.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12787.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12817.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12864.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12864.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12888.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12892.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 AKAP8P1
 
 sanders_11_ASD_discovery_cases-12939.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13014.p1
 
 
 Maternal
 Simplex (trio)
 NA
 PTPRD
 
 sanders_11_ASD_discovery_cases-13019.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13033.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13035.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13042.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13195.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PTPRD
 
 sanders_11_ASD_discovery_cases-13196.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13304.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13324.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 soueid_16_ASD_discovery_cases-caseBAK43
 
 
 Paternal
 N/A
 
 
 
 soueid_16_ASD_discovery_cases-caseLAS11
 
 
 Maternal
 Simplex
 
 
 
 szatmari_07_ASD_discovery_cases-NAAR002-G12-8045-101
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 JKAMPP1
 
 szatmari_07_ASD_discovery_cases-NAAR041-F10-00C04574
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 JKAMPP1
 
 szatmari_07_ASD_discovery_cases-NAAR041-F12-00C04583
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 JKAMPP1
 
 szatmari_07_ASD_discovery_cases-NAAR052-H6-HI1012
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 JKAMPP1
 
 szatmari_07_ASD_discovery_cases-NAAR071-H9-HI1766
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 JKAMPP1
 
 walker_13_ASD_discovery_cases-case8-14032-600
 
 
 Unknown
 Simplex
 Unknown
 PTPRD
 
 walker_13_ASD_discovery_cases-case8-3093-004
 
 
 Unknown
 Multiplex
 Unknown
 PTPRD
 
 yin_16_ASD_discovery_cases-case343
 
 
 Unknown
 Unknown
 Unknown
 PTPRD
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036001469_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036001469_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036003051_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036019198_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036019495_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036023067_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036023489_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036024602_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB130957_1007853859
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB263027_1007875546
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB263027_1007875546
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB309173_1007854770
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB333186_1007871685
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB334576_1007843533
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB376454_1007872131
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB391827_1007840228
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB408801_1007840263
 
 
  Unknown
 
 
  PTPRD
 
engchuan_15_ASD_discovery_controls-controlB419403_1007872303
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB466161_1007840573
 
 
  Unknown
 
 
  PTPRD
 
engchuan_15_ASD_discovery_controls-controlB466161_1007840573
 
 
  Unknown
 
 
  RNU2-47P,JKAMPP1
 
engchuan_15_ASD_discovery_controls-controlB477363_0067942596
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB489094_1007876037
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB519248_1007840750
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB555308_1007853571
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB557049_1007853857
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB614872_1007874936
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB624090_1007853967
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB653776_1007846516
 
 
  Unknown
 
 
  RN7SL849P,PRDX1P1,TYRP1,LURAP1L,LINC01235,LURAP1L-AS1,MPDZ
 
engchuan_15_ASD_discovery_controls-controlB659155_1007854741
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB665259_1007853930
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB682015_1007872283
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB701542_1007873365
 
 
  Unknown
 
 
  PTPRD
 
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB764282_1007872174
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB771507_1007873325
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB774741_1007854360
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB787931_1007853911
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB817828_0057061026
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB861253_1007875976
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB898827_1007870349
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB907712_1007852916
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB926040_1007875245
 
 
  Unknown
 
 
  PTPRD
 
engchuan_15_ASD_discovery_controls-controlB967654_1007872241
 
 
  Unknown
 
 
  AKAP8P1
 
engchuan_15_ASD_discovery_controls-controlB972811_0067949224
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB977307_1007842455
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB978910_1007853764
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB991945_1007873310
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900100_900100
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900197_900197
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900223_900223
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900273_900273
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900277_900277
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900336_900336
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900347_900347
 
 
  Unknown
 
 
  RPS26P3,RN7SL5P,PTPRD
 
engchuan_15_ASD_discovery_controls-controlHABC_900366_900366
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900454_900454
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900460_900460
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900510_900510
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900511_900511
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900830_900830
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900912_900912
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900966_900966
 
 
  Unknown
 
 
  PTPRD
 
engchuan_15_ASD_discovery_controls-controlHABC_901012_901012
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901022_901022
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901060_901060
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901139_901139
 
 
  Unknown
 
 
  JKAMPP1
 
engchuan_15_ASD_discovery_controls-controlHABC_901194_901194
 
 
  Unknown
 
 
  RNU2-47P,JKAMPP1
 
engchuan_15_ASD_discovery_controls-controlHABC_901235_901235
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902426_902426
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902525_902525
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902544_902544
 
 
  Unknown
 
 
  PTPRD
 
engchuan_15_ASD_discovery_controls-controlHABC_902555_902555
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902592_902592
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902599_902599
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902644_902644
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902727_902727
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902820_902820
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902839_902839
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902862_902862
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902893_902893
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split1308
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, PTPRD(dist=1317167),TYRP1(dist=733109)
 
kanduri_15_ASD_discovery_controls-control_split1502
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, PTPRD(dist=1044020),TYRP1(dist=762748)
 
kanduri_15_ASD_discovery_controls-control_split386
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, PTPRD(dist=51092),TYRP1(dist=2007184)
 
kanduri_15_ASD_discovery_controls-control_split436
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, PTPRD(dist=1317167),TYRP1(dist=632062)
 
kanduri_15_ASD_discovery_controls-control_split660
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, PTPRD(dist=1390529),TYRP1(dist=580820)
 
kanduri_15_ASD_discovery_controls-control_split743
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, PTPRD(dist=1390529),TYRP1(dist=580820)
 
krumm_13_ASD_discovery_controls-control12512.s1
 
 
  Maternal
  Simplex
 
  RN7SL849P,TYRP1,LURAP1L,LURAP1L-AS1
 
krumm_15_ASD_discovery_controls-control12512.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RN7SL849P,TYRP1,LURAP1L,LURAP1L-AS1
 
leppa_16_ASD_discovery_controls-AU001705
 
 
  Maternal
  Multiplex
 
  RN7SL849P,PRDX1P1,TYRP1,LURAP1L,LINC01235,LURAP1L-AS1,MPDZ
 
nord_11_ASD_discovery_controls-04C27962
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28292
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11023.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11029.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11032.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11067.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11071.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PTPRD
 
sanders_11_ASD_discovery_controls-11085.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11114.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11141.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11167.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11178.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11198.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11229.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PTPRD
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11291.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PTPRD
 
sanders_11_ASD_discovery_controls-11309.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PTPRD
 
sanders_11_ASD_discovery_controls-11321.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11323.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11329.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11345.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11359.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11396.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11399.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11425.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11494.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11532.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11537.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11537.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PTPRD
 
sanders_11_ASD_discovery_controls-11543.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11546.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11549.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11578.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11587.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11600.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11601.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU2-47P,JKAMPP1
 
sanders_11_ASD_discovery_controls-11616.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11641.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PTPRD
 
sanders_11_ASD_discovery_controls-11667.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PTPRD
 
sanders_11_ASD_discovery_controls-11711.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11721.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11723.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11731.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11766.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11768.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11827.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11857.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11879.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11895.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11897.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PTPRD
 
sanders_11_ASD_discovery_controls-11942.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11954.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11964.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11986.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11993.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12006.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12037.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12130.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12198.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12224.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12255.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TYRP1,LURAP1L-AS1
 
sanders_11_ASD_discovery_controls-12284.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12317.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12331.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12334.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12337.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12376.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12377.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12396.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12440.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12440.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12451.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12462.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12469.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12494.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12499.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12512.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RN7SL849P,TYRP1,LURAP1L,LURAP1L-AS1
 
sanders_11_ASD_discovery_controls-12536.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12598.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12651.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12664.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12749.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12780.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12787.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12864.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12939.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12964.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
soueid_16_ASD_discovery_controls-control9
 
 
 
 
 
  0 genes
 

No Animal Model Data Available
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