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13q12.11CNV Type: Deletion-Duplication


Largest CNV size: 311113 bp

Statistics Box:
Number of Reports: 20


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_16_ASD_discovery_cases
 ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
 71
 Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
 N/A
 N/A
 3557
 1
 0
 1
 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
 3411
 1
 0
 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
 477603
 6
 5
 11
 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
 479196
 3
 3
 6
 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
 137689
 0
 1
 1
 kalsner_17_ASD_discovery_cases
 Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
 100
 All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
 Range, 21 mos.-17 yrs.
 76.0% Male
 2200
 0
 1
 1
 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
 2737371
 4
 1
 5
 krumm_13_ASD_discovery_cases
 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
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 8726
 0
 4
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 500497
 1
 139
 140
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 230917
 1
 0
 1
 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
 113922
 0
 1
 1
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 481435
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 48297
 1
 2
 3
 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
 155427
 3
 1
 4
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 206850
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 311113
 5
 29
 34
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 311000
 2
 0
 2
 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
 67332
 0
 1
 1
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 307000
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 108897
 0
 1
 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
 266529
 6
 5
 11
 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
 112168
 1
 0
 1
 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
 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
 826
 0
 2
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 360173
 0
 107
 107
 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.
 
 37828
 0
 2
 2
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 48297
 1
 2
 3
 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)
 155427
 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.
 
 31235
 3
 16
 19
 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
 67332
 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
 108897
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_16_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq
 Lumpy
 SVtyper, gtCNV
 Solid phase hybridization (Illumina 2.5M)
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 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
 kalsner_17_ASD_discovery_cases
  52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
 CMA
  Platform not reported
 
 
 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
 krumm_13_ASD_discovery_cases
  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_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 None
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 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
 
 
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  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
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  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
 
 
  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_16_ASD_discovery_cases_caseREACH000292
 N/A
 M
 ASD
 Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
 
 20557503
 20561059
  3557
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseREACH000292
 N/A
 M
 ASD
 Case from REACH cohort
 
 20557611
 20561022
  3412
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14039_680
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20238424
 20447204
  208781
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14141_2390
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20238424
 20456753
  218330
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14175_2820
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19784476
 19851808
  67333
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14312_4290
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20232836
 20456753
  223918
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18094_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19556995
 20034598
  477604
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20003_1019001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20222358
 20528526
  306169
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4230_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19656385
 19754003
  97619
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4462_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21504035
 21569564
  65530
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5285_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20978323
 21129445
  151123
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8197_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19564505
 19924677
  360173
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8617_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20232836
 20447204
  214369
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13287.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 19067860
 19367860
  300001
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13784.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 19661375
 19751598
  90224
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-14044.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 19519006
 19998202
  479197
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-14452.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 20227861
 20527861
  300001
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU074403
 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
 20227861
 20527861
  300001
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU1744301
 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
 19555382
 20031482
  476101
 GRCh38
 Duplication
 Yes
  girirajan_13b_ASD_discovery_cases-7908109348
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 19588098
 19725787
  137690
 GRCh38
 Duplication
 No
  kalsner_17_ASD_discovery_cases-case9
 N/A
 N/A
 ASD
 Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
 
 20187573
 20189792
  2220
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21967730
 22503640
  535911
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001814
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20249154
 20521759
  272606
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001857
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20249154
 20521759
  272606
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002774
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20026650
 21967789
  1941140
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004140
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19837195
 22574567
  2737373
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11676.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 11676. SRS score of 90.
 Full-scale IQ (FSIQ) score of 78.
 20729079
 20737805
  8727
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12011.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12011. SRS score of 82.
 Full-scale IQ (FSIQ) score of 82.
 19851354
 19852180
  827
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12561.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12561. SRS score of 73.
 Full-scale IQ (FSIQ) score of 102.
 19851354
 19852180
  827
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13322.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13322. SRS score of 77.
 Full-scale IQ (FSIQ) score of 59.
 19851354
 19852180
  827
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11043.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11045.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11050.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11052.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11064.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11109.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11117.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11160.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11194.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11201.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11212.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11220.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11247.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11252.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11301.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11305.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11309.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11327.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11329.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11352.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11363.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11364.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11370.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11387.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11391.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11412.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11414.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11429.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11432.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11458.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11469.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11472.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11521.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11524.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11558.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11563.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11575.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11597.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11616.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11625.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11665.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11676.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 20729079
 20732121
  3043
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11691.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11753.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11797.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11824.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11827.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11851.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11869.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11893.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11897.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11916.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11939.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11959.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21147185
 21172506
  25322
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11978.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12007.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21159894
 21172506
  12613
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12025.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12046.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12056.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12093.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12097.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12137.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 19648421
 19852180
  203760
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12153.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172702
  17607
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12194.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12225.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12274.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12335.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12343.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12359.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12426.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12430.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12439.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12448.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12507.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12517.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12540.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12607.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12610.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12617.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12630.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12633.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12695.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12700.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12717.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12736.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12749.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12792.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12799.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12842.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12907.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12932.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21146804
 21172506
  25703
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12962.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12964.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12969.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13038.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13039.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13057.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13071.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13089.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13120.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13139.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13165.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13207.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13239.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13252.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13307.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172702
  17607
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13324.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13367.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13424.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13447.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13455.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13496.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13534.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13557.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13567.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13576.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13606.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13645.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13654.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13764.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13781.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13793.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13823.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13864.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13895.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13901.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13913.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13927.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13982.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13985.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14013.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14044.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 19493424
 19993921
  500498
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14104.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21146804
 21172506
  25703
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14123.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14147.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14193.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14200.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14369.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14399.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21155096
 21172506
  17411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14455.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21155096
 21168401
  13306
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11267.p1
 NA
 F
 ASD
 NA
 NA
 20228984
 20459900
  230917
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case115204
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 19579376
 19693297
  113922
 GRCh38
 Duplication
 No
  pfundt_16_NDD_discovery_cases-case41
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: GJB2 GJB6 deletion
 
 20085821
 20567257
  481437
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI3947A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1514302; NDAR ID NDAR_INVXD529UKD)
 
 19838698
 19852182
  13485
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0266B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017504; NDAR ID NDAR_INVWK082CR2)
 
 19703173
 19751469
  48297
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case98HI0442A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU016404; NDAR ID NDAR_INVHC581UNM)
 
 19473912
 19493503
  19592
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case122692L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 21013000
 21020730
  7731
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case138645L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 19885140
 19912001
  26862
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case68609
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 18650499
 18665387
  14889
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case91547L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 20446469
 20601895
  155427
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-120
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 20249904
 20456753
  206850
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11045.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
 21154616
 21158036
  3421
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11086.p1
 7.4
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 19889727
 19895931
  6205
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11135.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
 21154181
 21158036
  3856
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11255.p1
 12.7
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130
 19900631
 19971010
  70380
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11267.p1
 13.2
 F
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
 20238424
 20464508
  226085
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11294.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
 19846035
 19871303
  25269
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11305.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11309.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
 19846035
 19871303
  25269
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11349.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
 22077209
 22078914
  1706
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11363.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11587.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
 19846035
 19871303
  25269
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11627.p1
 5.7
 M
 ASD
 NA
 Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11665.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
 21154616
 21158036
  3421
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11824.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
 22070078
 22074005
  3928
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11827.p1
 17.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11909.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
 21154181
 21158036
  3856
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11919.p1
 4.1
 M
 ASD
 NA
 Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104
 21154181
 21158036
  3856
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12011.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
 19846035
 19877270
  31236
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 19647715
 19958828
  311114
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12150.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
 20727919
 20747115
  19197
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12187.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12240.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
 19851808
 19877270
  25463
 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
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12308.p1
 14.3
 F
 Aspergers
 NA
 Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 105
 21154181
 21158036
  3856
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12362.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
 19846035
 19871303
  25269
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12403.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 22647209
 22649869
  2661
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12407.p1
 9.4
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
 19846035
 19877270
  31236
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12561.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
 19851808
 19877270
  25463
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12568.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
 21154181
 21158036
  3856
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12757.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12879.p1
 10.3
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13095.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
 21154181
 21158209
  4029
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13168.p1
 7.9
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 21155087
 21158209
  3123
 GRCh38
 Duplication
 No
  shen_10_ASD_discovery_cases-ASD-09-054
 NA
 M
 ASD
 NA
 NA
 20226744
 20530430
  303687
 GRCh38
 Deletion
 No
  shen_10_ASD_discovery_cases-ASD-09-055
 NA
 F
 ASD
 NA
 NA
 20219050
 20387893
  168844
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case8-14175-2820
 N/A
 M
 ASD
 N/A
 N/A
 19784476
 19851808
  67333
 GRCh38
 Duplication
 No
  xu_16_ASD/DD/ID_discovery_cases-case29
 N/A
 N/A
 Developmental delay
 Primary diagnosis of developmental delay based on DQ scores.
 
 20223177
 20530273
  307097
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case444
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 19971574
 20080470
  108897
 GRCh38
 Duplication
 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-control110036016178_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20264080
  20323919
  59840
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036022952_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19656385
  19764503
  108119
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB331842_1007873285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19395323
  19661852
  266530
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB331842_1007873285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21465532
  21549537
  84006
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB391985_1007840230
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21239118
  21377670
  138553
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB573294_1007852893
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20264080
  20323919
  59840
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB810722_1007874889
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19846035
  19895931
  49897
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900390_900390
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19833213
  19920418
  87206
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900968_900968
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20398414
  20521581
  123168
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22561815
  22703879
  142065
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19833213
  19920418
  87206
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-30705103901
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  21389696
  21501864
  112169
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11509.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11509. SRS score N/A.
 
  19851354
  19852180
  827
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12011.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12011. SRS score of 43.
 
  19851354
  19852180
  827
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11045.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11046.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11159.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11160.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11190.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11201.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11212.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11220.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11251.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11325.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11330.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172702
  17607
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11339.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11347.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11391.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11412.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11450.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11458.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11463.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11466.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11472.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11521.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11542.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11575.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11597.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11616.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11625.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172702
  17607
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11775.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172702
  17607
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11792.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172702
  17607
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11797.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11812.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11869.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11939.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11959.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11981.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11982.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11984.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12007.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12041.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12044.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12229.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12231.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12274.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12329.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12382.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12399.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12518.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12540.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12568.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12610.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12626.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12695.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12700.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12701.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12840.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12923.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12924.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12930.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12932.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12969.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13005.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13010.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13021.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13036.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13063.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13071.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13072.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13076.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13077.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13082.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13089.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13120.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13139.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13188.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13239.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13250.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13266.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13416.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13456.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13533.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13543.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13547.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13556.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13576.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13636.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13642.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13644.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13645.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13654.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13666.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13692.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13697.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13764.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13793.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13813.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13850.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13851.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13855.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13901.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13913.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13966.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13991.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13997.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14044.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  19633748
  19993921
  360174
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14116.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14128.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21172506
  17411
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14153.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14405.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21155096
  21168401
  13306
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C26659
 
 
  Control
 
 
  19314564
  19352391
  37828
  Unknown
  Duplication
 
  nord_11_ASD_discovery_controls-04C27935
 
 
  Control
 
 
  19314564
  19345384
  30821
  Unknown
  Duplication
 
  poultney_13_ASD_discovery_controls-control04C27933A
  N/A
  M
  Control
  NIMH Control (NIMH ID 38427)
 
  19838698
  19852182
  13485
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C28088A
  N/A
  F
  Control
  NIMH Control (NIMH ID 37885)
 
  19838698
  19852182
  13485
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C40631
  N/A
  F
  Control
  NIMH Control (NIMH ID 80004)
 
  19703173
  19751469
  48297
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11108.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  21152899
  21158036
  5138
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11224.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  21154181
  21158036
  3856
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  22077209
  22078914
  1706
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11488.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  19846035
  19871303
  25269
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11509.s1
  20.3
  M
  Control (matched sibling)
  NA
  NA
  19846035
  19871303
  25269
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11563.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  19851808
  19871303
  19496
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11564.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  20395071
  20403867
  8797
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11627.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  21154181
  21158209
  4029
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  21154806
  21155087
  282
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  21154181
  21158036
  3856
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11827.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  21154181
  21158209
  4029
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11909.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  21154181
  21158209
  4029
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12011.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  19846035
  19877270
  31236
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12033.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  21154616
  21158036
  3421
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12051.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  21154181
  21158209
  4029
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12083.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  21154181
  21158209
  4029
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12187.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  21154181
  21155087
  907
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12403.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  22647209
  22649869
  2661
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12674.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  21154181
  21158209
  4029
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_16_ASD_discovery_cases_caseREACH000292
 Solid phase hybridization (Illumina 2.5M)
 
 De novo
 Unknown
 Possibly segregated
 
 
 brandler_18_ASD_discovery_cases-caseREACH000292
 SNP VCF
 
 De novo
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14039_680
 
 
 Unknown
 
 
 MIR4499,CRYL1
 
 engchuan_15_ASD_discovery_cases-case14141_2390
 
 
 Unknown
 
 
 MIR4499,CRYL1
 
 engchuan_15_ASD_discovery_cases-case14175_2820
 
 
 Unknown
 
 
 ST6GALNAC4P1,ZMYM5
 
 engchuan_15_ASD_discovery_cases-case14312_4290
 
 
 Unknown
 
 
 MIR4499,CRYL1
 
 engchuan_15_ASD_discovery_cases-case18094_301
 
 
 Unknown
 
 
 ESRRAP1,CASC4P1,PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,MRPS31P2,LINC00350,PSPC1,ZMYM5,MPHOSPH8,ZMYM2
 
 engchuan_15_ASD_discovery_cases-case20003_1019001
 
 
 Unknown
 
 
 GJB6,MIR4499,CRYL1
 
 engchuan_15_ASD_discovery_cases-case4230_1
 
 
 Unknown
 
 
 PSPC1-AS2,RN7SL166P,PSPC1,MPHOSPH8
 
 engchuan_15_ASD_discovery_cases-case4462_1
 
 
 Unknown
 
 
 FNTAP2,RNU6-59P,MICU2
 
 engchuan_15_ASD_discovery_cases-case5285_3
 
 
 Unknown
 
 
 LATS2-AS1,RNU4-9P,RPS12P23,IPPKP1,LATS2
 
 engchuan_15_ASD_discovery_cases-case8197_202
 
 
 Unknown
 
 
 CASC4P1,PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,MRPS31P2,LINC00350,PSPC1,ZMYM5,MPHOSPH8
 
 engchuan_15_ASD_discovery_cases-case8617_201
 
 
 Unknown
 
 
 MIR4499,CRYL1
 
 girirajan_13a_ASD_discovery_cases-13287.p1
 
 
 Unknown
 Simplex
 Unknown
 RNA5SP24,TUBA3C,MRPL3P1,LINC00421,SMPD4P2,PSPC1P1,ANKRD26P3,CENPIP1,PARP4P2
 
 girirajan_13a_ASD_discovery_cases-13784.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 PSPC1-AS2,RN7SL166P,PSPC1,MPHOSPH8
 
 girirajan_13a_ASD_discovery_cases-14044.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 ESRRAP1,CASC4P1,PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,MRPS31P2,LINC00350,PSPC1,ZMYM5,TPTE2,MPHOSPH8,ZMYM2
 
 girirajan_13a_ASD_discovery_cases-14452.p1
 
 
 Unknown
 Simplex
 Unknown
 GJB6,MIR4499,CRYL1
 
 girirajan_13a_ASD_discovery_cases-AU074403
 
 
 Unknown
 Multiplex
 Unknown
 GJB6,MIR4499,CRYL1
 
 girirajan_13a_ASD_discovery_cases-AU1744301
 aCGH (NimbleGen 135K array)
 
 Maternal
 Multiplex
 Unknown
 ESRRAP1,CASC4P1,PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,MRPS31P2,LINC00350,PSPC1,ZMYM5,MPHOSPH8,ZMYM2
 
 girirajan_13b_ASD_discovery_cases-7908109348
 
 
 Unknown
 Unknown
 Unknown
 PSPC1-AS2,LINC00350,PSPC1,MPHOSPH8
 
 kalsner_17_ASD_discovery_cases-case9
 
 
 Unknown
 Unknown
 Unknown
 GJB2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NME1P1,MTND3P1,LINC00540
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001814
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MIR4499,CRYL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001857
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR4499,CRYL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002774
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 PPIAP28,LINC00556,GJB2,GJB6,MIR4499,SLC35E1P1,RNU2-7P,RANP8,PPIAP27,RPSAP54,LATS2-AS1,RNU4-9P,RPS12P23,IPPKP1,SAP18,MRPL57,LINC01046,GRK6P1,GAPDHP52,RNA5SP25,ZDHHC20-IT1,HIST1H2BPS3,FNTAP2,RNU6-59P,RPS7P10,LINC00424,KRR1P1,LINC01072,GJA3,EEF1AKMT1,CNOT4P1,HNRNPA1P30,LATS2,SKA3,ESRRAP2,MIPEPP3,LINC00539,ZDHHC20,FGF9,RN7SL766P,ZMYM2,CRYL1,IFT88,IL17D,XPO4,MICU2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004140
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 PPIAP28,LINC00556,GJB2,GJB6,MIR4499,SLC35E1P1,RNU2-7P,RANP8,PPIAP27,RPSAP54,LATS2-AS1,RNU4-9P,RPS12P23,IPPKP1,SAP18,MRPL57,LINC01046,GRK6P1,GAPDHP52,RNA5SP25,ZDHHC20-IT1,HIST1H2BPS3,FNTAP2,RNU6-59P,RPS7P10,LINC00424,NME1P1,MTND3P1,ZMYM5,KRR1P1,LINC01072,GJA3,EEF1AKMT1,CNOT4P1,HNRNPA1P30,LATS2,SKA3,ESRRAP2,MIPEPP3,LINC00539,ZDHHC20,FGF9,RN7SL766P,ZMYM2,CRYL1,IFT88,IL17D,XPO4,MICU2,LINC00540
 
 krumm_13_ASD_discovery_cases-case11676.p1
 
 
 Maternal
 Simplex
 Segregated
 EEF1AKMT1
 
 krumm_13_ASD_discovery_cases-case12011.p1
 
 
 Paternal
 Simplex
 Not segregated
 ZMYM5
 
 krumm_13_ASD_discovery_cases-case12561.p1
 
 
 Paternal
 Simplex
 Segregated
 ZMYM5
 
 krumm_13_ASD_discovery_cases-case13322.p1
 
 
 Paternal
 Simplex
 Segregated
 ZMYM5
 
 krumm_15_ASD_discovery_cases-case11043.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11045.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11050.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11052.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11064.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11109.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11117.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11160.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11194.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11201.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11212.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11220.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11247.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11252.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11301.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11305.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11309.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11327.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11329.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11352.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11363.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11364.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11370.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11387.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11391.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11412.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11414.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11429.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11432.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11458.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11469.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11472.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11521.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11524.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11558.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11563.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11575.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11597.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11616.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11625.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11665.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11676.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 EEF1AKMT1
 
 krumm_15_ASD_discovery_cases-case11691.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11753.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11797.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11824.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11827.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11851.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11869.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11893.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11897.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case11916.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11939.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case11959.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SAP18,SKA3
 
 krumm_15_ASD_discovery_cases-case11978.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12007.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case12025.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12046.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12056.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12093.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12097.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12137.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,PSPC1,ZMYM5,MPHOSPH8
 
 krumm_15_ASD_discovery_cases-case12153.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12194.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12225.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12274.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case12335.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12343.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12359.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12426.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12430.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12439.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12448.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12507.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12517.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12540.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case12607.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12610.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case12617.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case12630.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12633.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12695.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case12700.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case12717.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12736.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12749.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12792.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case12799.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12842.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12907.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12932.p1
 1M-Duov3
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 SAP18,SKA3
 
 krumm_15_ASD_discovery_cases-case12962.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12964.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case12969.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13038.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13039.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13057.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13071.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13089.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13120.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13139.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13165.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13207.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13239.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13252.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13307.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13324.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13367.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13424.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13447.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13455.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13496.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13534.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13557.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13567.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13576.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13606.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13645.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13654.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13764.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13781.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13793.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13823.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13864.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13895.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13901.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13913.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13927.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case13982.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case13985.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case14013.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case14044.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ESRRAP1,CASC4P1,PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,MRPS31P2,LINC00350,PSPC1,ZMYM5,TPTE2,MPHOSPH8,ZMYM2
 
 krumm_15_ASD_discovery_cases-case14104.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 SAP18,SKA3
 
 krumm_15_ASD_discovery_cases-case14123.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case14147.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3
 
 krumm_15_ASD_discovery_cases-case14193.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case14200.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case14369.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case14399.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3
 
 krumm_15_ASD_discovery_cases-case14455.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3
 
 levy_11_ASD_discovery_cases-11267.p1
 
 
 Maternal
 Simplex
 Segregated
 GJB6,MIR4499,CRYL1
 
 mosca_16_DCD_discovery_cases-case115204
 
 
 Unknown
 Unknown
 Unknown
 PSPC1-AS2,LINC00350,PSPC1,MPHOSPH8
 
 pfundt_16_NDD_discovery_cases-case41
 
 
 
 
 
 PPIAP28,LINC00556,GJB2,GJB6,MIR4499,LINC01072,GJA3,ZMYM2,CRYL1,IFT88
 
 poultney_13_ASD_discovery_cases-case05HI3947A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZMYM5
 
 poultney_13_ASD_discovery_cases-case98HI0266B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RN7SL166P,PSPC1
 
 poultney_13_ASD_discovery_cases-case98HI0442A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TPTE2
 
 prasad_12_ASD_discovery_cases-case122692L
 
 
 Unknown
 Unknown
 Unknown
 EFHA1
 
 prasad_12_ASD_discovery_cases-case138645L
 
 
 Unknown
 Unknown
 Unknown
 CRYL1
 
 prasad_12_ASD_discovery_cases-case68609
 
 
 Unknown
 Unknown
 Unknown
 TUBA3C
 
 prasad_12_ASD_discovery_cases-case91547L
 
 
 Unknown
 Unknown
 Unknown
 LATS2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-120
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MIR4499,CRYL1
 
 sanders_11_ASD_discovery_cases-11045.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11135.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-11255.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ZMYM2
 
 sanders_11_ASD_discovery_cases-11267.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR4499,CRYL1
 
 sanders_11_ASD_discovery_cases-11294.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZMYM5
 
 sanders_11_ASD_discovery_cases-11305.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-11309.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-11349.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC00540
 
 sanders_11_ASD_discovery_cases-11363.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SKA3
 
 sanders_11_ASD_discovery_cases-11587.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-11627.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-11665.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-11824.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 LINC00540
 
 sanders_11_ASD_discovery_cases-11827.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-11909.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-11919.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-12011.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,PSPC1,ZMYM5,MPHOSPH8,ZMYM2
 
 sanders_11_ASD_discovery_cases-12150.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RANP8,EEF1AKMT1
 
 sanders_11_ASD_discovery_cases-12187.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-12240.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SKA3
 
 sanders_11_ASD_discovery_cases-12308.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-12362.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SKA3
 
 sanders_11_ASD_discovery_cases-12403.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12407.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12561.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12568.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-12757.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SKA3
 
 sanders_11_ASD_discovery_cases-12879.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 sanders_11_ASD_discovery_cases-13095.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 SKA3
 
 sanders_11_ASD_discovery_cases-13168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SKA3
 
 shen_10_ASD_discovery_cases-ASD-09-054
 
 
 Unknown
 NA
 NA
 GJB6,MIR4499,CRYL1
 
 shen_10_ASD_discovery_cases-ASD-09-055
 
 
 Unknown
 NA
 NA
 GJB6
 
 walker_13_ASD_discovery_cases-case8-14175-2820
 
 
 Unknown
 Simplex
 Unknown
 ST6GALNAC4P1,ZMYM5
 
 xu_16_ASD/DD/ID_discovery_cases-case29
 
 
 Maternal
 
 
 GJB6,MIR4499,CRYL1
 
 yin_16_ASD_discovery_cases-case444
 
 
 Unknown
 Unknown
 Unknown
 KRR1P1,ZMYM2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016178_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036022952_
 
 
  Unknown
 
 
  PSPC1-AS2,RN7SL166P,PSPC1,MPHOSPH8
 
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
 
 
  Unknown
 
 
  CYCSP32,ESRRAP1,CASC4P1,SLC25A15P2,MRPS31P2,LINC00350,PARP4P2,TPTE2,MPHOSPH8
 
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
 
 
  Unknown
 
 
  HIST1H2BPS3,FNTAP2,MICU2
 
engchuan_15_ASD_discovery_controls-controlB391985_1007840230
 
 
  Unknown
 
 
  GRK6P1,GAPDHP52,RNA5SP25,ZDHHC20-IT1,ESRRAP2,MIPEPP3,LINC00539,ZDHHC20
 
engchuan_15_ASD_discovery_controls-controlB573294_1007852893
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB810722_1007874889
 
 
  Unknown
 
 
  ZMYM5
 
engchuan_15_ASD_discovery_controls-controlHABC_900390_900390
 
 
  Unknown
 
 
  ZMYM5
 
engchuan_15_ASD_discovery_controls-controlHABC_900968_900968
 
 
  Unknown
 
 
  MIR4499,CRYL1
 
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
 
 
  Unknown
 
 
  FTH1P7
 
engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
 
 
  Unknown
 
 
  ZMYM5
 
girirajan_13b_ASD_discovery_controls-30705103901
 
 
  Unknown
 
 
  HIST1H2BPS3,ZDHHC20,MICU2
 
krumm_13_ASD_discovery_controls-control11509.s1
 
 
  Paternal
  Simplex
 
  ZMYM5
 
krumm_13_ASD_discovery_controls-control12011.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  ZMYM5
 
krumm_15_ASD_discovery_controls-control11045.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11046.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11159.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11160.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11190.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11201.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11212.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11220.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11251.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11325.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11330.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11339.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11347.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11391.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11412.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11450.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11458.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11463.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11466.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11472.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11521.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11542.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11575.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11597.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11616.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11625.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11775.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11792.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11797.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11812.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11869.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11939.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11959.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11981.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11982.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control11984.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12007.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12041.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12044.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12229.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12231.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12274.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12329.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12382.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12399.s1
  1M-Duov3
 
  De novo
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12518.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12540.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12568.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12610.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12626.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12695.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12700.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12701.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12840.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12923.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12924.s1
  Illumina 1MDuo
 
  De novo
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12930.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12932.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control12969.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13005.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13010.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13021.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13036.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13063.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13071.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13072.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13076.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13077.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13082.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13089.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13120.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13139.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13188.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13239.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13250.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13266.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13416.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13456.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13533.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13543.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13547.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13556.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13576.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13636.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13642.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13644.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13645.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13654.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13666.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13692.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13697.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13764.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13793.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13813.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13850.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13851.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13855.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13901.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13913.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13966.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13991.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control13997.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control14044.s1
  Omni2.5-4v1
 
  Paternal
 
 
  PSPC1-AS2,RN7SL166P,ST6GALNAC4P1,PSPC1,ZMYM5,MPHOSPH8,ZMYM2
 
krumm_15_ASD_discovery_controls-control14116.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control14128.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control14153.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3
 
krumm_15_ASD_discovery_controls-control14405.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3
 
nord_11_ASD_discovery_controls-04C26659
 
 
 
 
 
  ZMYM5
 
nord_11_ASD_discovery_controls-04C27935
 
 
 
 
 
  ZMYM5
 
poultney_13_ASD_discovery_controls-control04C27933A
 
 
  Unknown
 
 
  ZMYM5
 
poultney_13_ASD_discovery_controls-control04C28088A
 
 
  Unknown
 
 
  ZMYM5
 
poultney_13_ASD_discovery_controls-control05C40631
 
 
  Unknown
 
 
  RN7SL166P,PSPC1
 
sanders_11_ASD_discovery_controls-11108.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-11224.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC00540
 
sanders_11_ASD_discovery_controls-11488.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZMYM5
 
sanders_11_ASD_discovery_controls-11509.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZMYM5
 
sanders_11_ASD_discovery_controls-11563.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZMYM5
 
sanders_11_ASD_discovery_controls-11564.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CRYL1
 
sanders_11_ASD_discovery_controls-11627.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-11827.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-11909.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-12011.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZMYM5
 
sanders_11_ASD_discovery_controls-12033.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-12051.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-12083.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-12187.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SKA3
 
sanders_11_ASD_discovery_controls-12403.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12674.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SKA3
 

No Animal Model Data Available
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