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15q21.3CNV Type: Deletion-Duplication


Largest CNV size: 1200000 bp

Statistics Box:
Number of Reports: 19


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
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-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.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
NA
Duplication
NA
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 akter_23_ASD/ADHD/DD/ID_discovery_cases
  NA NA
 Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
 212
 Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
 NA
 68.40% Male
 133680
 1
 1
 1
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 1200000
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 1100000
 0
 1
 1
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 23155
 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
 475396
 7
 2
 9
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 48035
 1
 0
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 369599
 1
 0
 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
 342975
 0
 1
 1
 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
 33400
 1
 3
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 30495
 1
 9
 10
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 220216
 1
 2
 3
 monteiro_19_ASD_discovery_cases
  NA NA
 Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
 253
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
 N/A
 76.68% Male
 48000
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 112000
 0
 1
 1
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 173074
 0
 2
 2
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 53868
 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)
 179452
 2
 2
 4
 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
 58784
 1
 0
 1
 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
 118527
 0
 1
 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
 225081
 97
 9
 106

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 1200000
 0
 0
 0
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 429853
 7
 12
 19
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 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
 13442
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 178793
 1
 4
 5
 leblond_19_ASD_discovery_controls
 Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
 321
 Control
 N/A
 N/A
 23910
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 220216
 2
 2
 4
 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)
 4787
 1
 0
 1
 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)
 58784
 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.
 
 220630
 85
 5
 90

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 akter_23_ASD/ADHD/DD/ID_discovery_cases
  Bangladesh
 CMA
  Illumina Global Screening Array-24 BeadChip
 CNVPartition
 Illumina Genomestudio
 None
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 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
 
 
 monteiro_19_ASD_discovery_cases
  Portuguese
 aCGH
  Agilent SurePrint G3 4x180K
 
 Agilent Cytogenomics
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  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
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  leblond_19_ASD_discovery_controls
  Faroe Islands
  Solid phase hybridization, WES
  Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
  PennCNV, QuantiSNP
  XHMM
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  akter_23_ASD/ADHD/DD/ID_discovery_cases-case140
  NA NA
 0.02 yrs.
 M
 Seizures
 Convulsions and eye rolling 3 times/day, cyanosis, mild jaundice, absence of crying after birth. Growth parameters: height N/A, weight 3.5 kg, head circumference N/A. Family history: born to non-consanguineous parents.
 
 57352069
 57485748
  133680
 GRCh38
 Duplication
 No
  christian_08_ASD_discovery_cases-AU046703
 NA
 M
 ASD
 NA
 NA
 58566849
 59793956
  1227108
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_301274
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 54465728
 55545379
  1079652
 GRCh38
 Duplication
 No
  egger_14_ASD_discovery_cases-caseA23
 10 yrs. (born 2004)
 F
 ASD
 Diagnosis: early infantile autism. Co-morbidities/additional features: none reported. Family history: autistic father. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 Cognitive impairment
 54452425
 54475579
  23155
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14180_2910
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53512137
 53561134
  48998
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20149_1623021
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56324591
 56410879
  86289
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4239_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57352069
 57483628
  131560
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4383_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56005229
 56480625
  475397
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5469_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 55100985
 55154852
  53868
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6212_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56373629
 56405899
  32271
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6227_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57352069
 57483628
  131560
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6366_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 54621480
 54729959
  108480
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8639_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 54577735
 54612584
  34850
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1908305
 
 
 Autism
 
 
 51906962
 51954996
  48035
 Unknown
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-9405102860
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 56942572
 57312171
  369600
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001875
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 55279032
 55622007
  342976
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12295.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12295. SRS score of 90.
 Full-scale IQ (FSIQ) score of 104.
 57437999
 57461892
  23894
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12837.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12837. SRS score of 86.
 Full-scale IQ (FSIQ) score of 89.
 57437999
 57461892
  23894
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13330.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13330. SRS score of 60.
 Full-scale IQ (FSIQ) score of 101.
 53699749
 53733149
  33401
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case13843.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13843. SRS score of 90.
 Full-scale IQ (FSIQ) score of 66.
 55183314
 55205705
  22392
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11329.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 57437999
 57461892
  23894
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12295.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 57437999
 57461892
  23894
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12385.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 58538332
 58568827
  30496
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12429.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 57437999
 57461892
  23894
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12754.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 57437999
 57451601
  13603
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12837.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 57437999
 57461892
  23894
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13150.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 57437999
 57461892
  23894
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13812.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 57437999
 57461892
  23894
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13843.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 55183314
 55205705
  22392
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13966.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 57437999
 57453818
  15820
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11236.p1
 NA
 M
 ASD
 NA
 NA
 56318418
 56383618
  65201
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11329.p1
 NA
 M
 ASD
 NA
 NA
 57350881
 57487990
  137110
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11439.p1
 NA
 M
 ASD
 NA
 NA
 53963646
 54183861
  220216
 GRCh38
 Duplication
 No
  monteiro_19_ASD_discovery_cases_case32
  NA NA
 N/A
 M
 ASD
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: none reported.
 Normal (no intellectual disability)
 58520800
 58568758
  47959
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam1027Proband10761
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 57353126
 57465313
  112188
 GRCh38
 Duplication
 No
  o'roak_12_ASD_discovery_cases-case13415.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo BRSK2 in-frame deletion mutation, de novo CNOT4 missense mutation, and de novo C9orf68 synonymous mutation. No additional clinical info available.
 Low IQ. Non verbal IQ, 48
 57350650
 57516986
  166337
 GRCh38
 Duplication
 Yes
  o'roak_12_ASD_discovery_cases-case13812.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo PDIA6 missense mutation. No additional clinical info available.
 Low IQ. Non verbal IQ, 36
 57343912
 57516986
  173075
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5469_3
 NA
 M
 ASD
 NA
 NA
 55100985
 55154852
  53868
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case01HI1892A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU021004; NDAR ID NDAR_INVBP724EAM)
 
 57282443
 57461894
  179452
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3066A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1212302; NDAR ID NDAR_INVLH488CAM)
 
 53704986
 53722910
  17925
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case04HI3498A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1267301; NDAR ID NDAR_INVCF053GG3)
 
 55320275
 55340823
  20549
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0802A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
 
 57437998
 57461894
  23897
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case115816L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 53179132
 53237915
  58784
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1213-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 57352069
 57470595
  118527
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11013.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 132; non-verbal IQ, 137; verbal IQ, 119
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11017.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
 55990695
 56005229
  14535
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11031.p1
 13.8
 M
 Aspergers
 NA
 Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11038.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
 53256278
 53258362
  2085
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11050.p1
 5.7
 F
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11060.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11089.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 39
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11092.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11141.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11154.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11232.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11233.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11309.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11329.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 57352069
 57483628
  131560
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11330.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11357.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11364.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11371.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11437.p1
 16.6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
 54428843
 54510093
  81251
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 53963308
 54167533
  204226
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11462.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 117; verbal IQ, 121
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11490.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 101; verbal IQ, 57
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11540.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11541.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11549.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11597.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11598.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
 56500315
 56503440
  3126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11664.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11691.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
 56500315
 56513975
  13661
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11707.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11765.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11781.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11812.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11843.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
 56513975
 56535896
  21922
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11860.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11895.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 79
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11966.p1
 13.2
 M
 Autism
 NA
 Full-scale IQ, 32; non-verbal IQ, 35; verbal IQ, 26
 57667430
 57669831
  2402
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12011.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12030.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 56500315
 56513975
  13661
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12051.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
 54385361
 54391233
  5873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12061.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12097.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12115.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
 55936478
 55968304
  31827
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12154.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12170.p1
 7.8
 F
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12185.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12189.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12255.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12295.p1
 15.6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 110; verbal IQ, 93
 57351455
 57467268
  115814
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12295.p1
 15.6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 110; verbal IQ, 93
 54836308
 54889026
  52719
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12303.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 74; verbal IQ, 96
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12316.p1
 12.5
 M
 ASD
 NA
 Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12320.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12418.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12423.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12429.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
 57351455
 57483628
  132174
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12445.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12472.p1
 5.6
 F
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12477.p1
 14.1
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12478.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12484.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 107; verbal IQ, 83
 55121336
 55152086
  30751
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12497.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12517.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 41; verbal IQ, 20
 54847224
 54860454
  13231
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12536.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12606.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
 55425334
 55496634
  71301
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12618.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 102
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12631.p1
 17.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 76
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 55129845
 55152086
  22242
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12642.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 91; verbal IQ, 113
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12647.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12648.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12661.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12664.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
 56500315
 56509361
  9047
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12667.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12671.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12682.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12729.p1
 17
 F
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 80; verbal IQ, 70
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12754.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 125; verbal IQ, 115
 57351455
 57483628
  132174
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12754.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 125; verbal IQ, 115
 56500315
 56509361
  9047
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12784.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
 54607066
 54620241
  13176
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12821.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 86
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12837.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
 57351455
 57483628
  132174
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12851.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12871.p1
 16.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ, 59
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12902.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 114; verbal IQ, 123
 53478357
 53703438
  225082
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12925.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
 56500315
 56513975
  13661
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12939.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12941.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13006.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13021.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13023.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 118; verbal IQ, 106
 56500315
 56509361
  9047
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13035.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13065.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13082.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13150.p1
 8.1
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 50
 57351455
 57483628
  132174
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13152.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13175.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13195.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13367.p1
 9.7
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
 56500315
 56507609
  7295
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB289384_1007874635
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57352069
  57483628
  131560
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB289384_1007874635
  N/A
  N/A
  Control
  No previous psychiatric history
 
  54836308
  54889026
  52719
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB291419_1007842029
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55573867
  55662907
  89041
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB427853_1007853576
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57352069
  57483628
  131560
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB437844_1007854382
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55240013
  55320313
  80301
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB439994_1007852600
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55573867
  55662907
  89041
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB495273_1007872860
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57352069
  57483628
  131560
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB533652_1007873177
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56797300
  57227153
  429854
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB667696_1007873586
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56500315
  56534027
  33713
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB754328_1007852652
  N/A
  N/A
  Control
  No previous psychiatric history
 
  54640518
  54719126
  78609
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB885552_1007853677
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56310724
  56395619
  84896
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900036_900036
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53963308
  54106756
  143449
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900279_900279
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56017343
  56072704
  55362
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900558_900558
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57343521
  57488840
  145320
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900584_900584
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57361554
  57612879
  251326
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900876_900876
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57351455
  57483628
  132174
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900995_900995
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55376938
  55415993
  39056
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902577_902577
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57351455
  57483628
  132174
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902951_902951
  N/A
  N/A
  Control
  No previous psychiatric history
 
  54764284
  54826694
  62411
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12295.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12295. SRS score N/A.
 
  57440376
  57453818
  13443
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11030.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  53517698
  53597274
  79577
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11413.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  55182151
  55360944
  178794
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12295.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  57437999
  57461892
  23894
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12676.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  57437999
  57461892
  23894
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13456.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  57437999
  57461892
  23894
  GRCh38
  Duplication
  Yes
  leblond_19_ASD_discovery_controls-controlPN400281
  N/A
  F
  Control
  Non-autism control
 
  57437939
  57461853
  23915
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11030.s1
  NA
  F
  Control
  NA
  NA
  53502369
  53600795
  98427
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11236.s1
  NA
  M
  Control
  NA
  NA
  56318418
  56383618
  65201
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11413.s1
  NA
  M
  Control
  NA
  NA
  55163667
  55360418
  196752
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11439.s1
  NA
  M
  Control
  NA
  NA
  53963646
  54183861
  220216
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C28484A
  N/A
  F
  Control
  NIMH Control (NIMH ID 32596)
 
  54622327
  54627113
  4787
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11013.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11030.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  53499591
  53598196
  98606
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11031.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11045.s1
  5.1
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11051.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11054.s1
  10.5
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11086.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11089.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11092.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11141.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  54838981
  54845690
  6710
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11159.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11176.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11196.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11200.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11219.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  54048231
  54055988
  7758
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11233.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11258.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11284.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11289.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11334.s1
  12.7
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11357.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56513975
  13661
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11364.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11393.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11395.s1
  3.5
  M
  Control (matched sibling)
  NA
  NA
  55801540
  55818348
  16809
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11396.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11413.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  55164312
  55362214
  197903
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11439.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  53963308
  54183938
  220631
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11441.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11462.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  56494916
  56503440
  8525
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11479.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11490.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11499.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  57361554
  57367673
  6120
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11540.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11541.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11549.s1
  21.9
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11572.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11597.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56503440
  3126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11707.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11766.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11860.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11895.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11913.s1
  5.9
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11963.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56513975
  13661
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11984.s1
  7.7
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11998.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56509361
  9047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12051.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  54385361
  54391233
  5873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12051.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12115.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  55936478
  55968304
  31827
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12153.s1
  16.5
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56509361
  9047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12154.s1
  9.1
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12170.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56513975
  13661
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12175.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12185.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12220.s1
  16.1
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12255.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12295.s1
  20
  M
  Control (matched sibling)
  NA
  NA
  57351455
  57483628
  132174
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12295.s1
  20
  M
  Control (matched sibling)
  NA
  NA
  54836308
  54897508
  61201
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12313.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12317.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12403.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  53360768
  53378451
  17684
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12418.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12420.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12438.s1
  6.4
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12445.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12478.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12517.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  54845690
  54860454
  14765
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12536.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12540.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12565.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12572.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12618.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12646.s1
  16.5
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56509361
  9047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12661.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  57663371
  57685172
  21802
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12676.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  57351455
  57483628
  132174
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12729.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12821.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12931.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  56259549
  56298920
  39372
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12939.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12944.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  57151117
  57152842
  1726
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13006.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13082.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13193.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13195.s1
  10.1
  M
  Control (matched sibling)
  NA
  NA
  56500315
  56507609
  7295
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 akter_23_ASD/ADHD/DD/ID_discovery_cases-case140
 
 
 Unknown
 
 
 CGNL1,RNU6-844P
 
 christian_08_ASD_discovery_cases-AU046703
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 HMGB1P51,HSP90AB4P,ZNF444P1,MIR2116,LDHAL6B,RNU4-80P,RNU6-212P,RNA5SP396,PIGHP1,RN7SKP95,SLTM,GTF2A2,BNIP2,LIPC,MINDY2,RNF111,CCNB2,MYO1E,FAM81A,GCNT3,RPS3AP6,ADAM10
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_301274
 
 
 Unknown
 
 
 PIGBOS1,MIR628,PIGB,CCPG1,C15orf65,RSL24D1,RAB27A,DNAAF4-CCPG1,DNAAF4,UNC13C,PYGO1
 
 egger_14_ASD_discovery_cases-caseA23
 
 Paternal
 Unknown
 Multi-generational
 Unknown
 UNC13C
 
 engchuan_15_ASD_discovery_cases-case14180_2910
 
 
 Unknown
 
 
 WDR72
 
 engchuan_15_ASD_discovery_cases-case20149_1623021
 
 
 Unknown
 
 
 TEX9
 
 engchuan_15_ASD_discovery_cases-case4239_1
 
 
 Unknown
 
 
 RNU6-844P,CGNL1
 
 engchuan_15_ASD_discovery_cases-case4383_1
 
 
 Unknown
 
 
 CNOT6LP1,RN7SL568P,CD24P2,RNU6-1287P,HMGB1P33,MNS1,RFX7,TEX9
 
 engchuan_15_ASD_discovery_cases-case5469_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6212_4
 
 
 Unknown
 
 
 TEX9
 
 engchuan_15_ASD_discovery_cases-case6227_4
 
 
 Unknown
 
 
 RNU6-844P,CGNL1
 
 engchuan_15_ASD_discovery_cases-case6366_3
 
 
 Unknown
 
 
 UNC13C
 
 engchuan_15_ASD_discovery_cases-case8639_201
 
 
 Unknown
 
 
 UNC13C
 
 gai_11_ASD_discovery_cases-AU1908305
 
 
 Inherited
 
 
 0 genes
 
 girirajan_13b_ASD_discovery_cases-9405102860
 
 
 Unknown
 Unknown
 Unknown
 HNRNPA3P11,LINC00926,TCF12
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001875
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PIGBOS1,MIR628,PIGB,CCPG1,C15orf65,RAB27A,DNAAF4-CCPG1,DNAAF4,PRTG,PYGO1
 
 krumm_13_ASD_discovery_cases-case12295.p1
 
 
 Maternal
 Simplex
 Not segregated
 CGNL1
 
 krumm_13_ASD_discovery_cases-case12837.p1
 
 
 Paternal
 Simplex
 Segregated
 CGNL1
 
 krumm_13_ASD_discovery_cases-case13330.p1
 
 
 Maternal
 Simplex
 Segregated
 WDR72
 
 krumm_13_ASD_discovery_cases-case13843.p1
 
 
 Maternal
 Simplex
 Segregated
 RSL24D1,RAB27A
 
 krumm_15_ASD_discovery_cases-case11329.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 CGNL1
 
 krumm_15_ASD_discovery_cases-case12295.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CGNL1
 
 krumm_15_ASD_discovery_cases-case12385.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 LIPC
 
 krumm_15_ASD_discovery_cases-case12429.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 CGNL1
 
 krumm_15_ASD_discovery_cases-case12754.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 CGNL1
 
 krumm_15_ASD_discovery_cases-case12837.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 CGNL1
 
 krumm_15_ASD_discovery_cases-case13150.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 CGNL1
 
 krumm_15_ASD_discovery_cases-case13812.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 CGNL1
 
 krumm_15_ASD_discovery_cases-case13843.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 RSL24D1,RAB27A
 
 krumm_15_ASD_discovery_cases-case13966.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 CGNL1
 
 levy_11_ASD_discovery_cases-11236.p1
 
 
 Paternal
 Simplex
 Not segregated
 HMGB1P33,TEX9
 
 levy_11_ASD_discovery_cases-11329.p1
 
 
 Maternal
 Simplex
 Segregated
 RNU6-844P,CGNL1
 
 levy_11_ASD_discovery_cases-11439.p1
 
 
 Paternal
 Simplex
 Not segregated
 UNC13C
 
 monteiro_19_ASD_discovery_cases_case32
 
 
 Paternal
 
 
 LIPC
 
 nava_13_ASD_discovery_cases-Fam1027Proband10761
 
 
 Unknown
 Simplex
 Unknown
 RNU6-844P,CGNL1
 
 o'roak_12_ASD_discovery_cases-case13415.p1
 aCGH, Sanger sequencing
 
 Maternal
 Simplex (quad)
 Unknown
 RNU6-844P,CGNL1
 
 o'roak_12_ASD_discovery_cases-case13812.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 RNU6-844P,CGNL1
 
 pinto_10_ASD_discovery_cases-case5469_3
 Agilent1M
 
 maternal
 NA
 NA
 
 
 poultney_13_ASD_discovery_cases-case01HI1892A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 LINC00926,LINC01413,NDUFB10P1,RNU6-844P,TCF12,CGNL1
 
 poultney_13_ASD_discovery_cases-case04HI3066A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 WDR72
 
 poultney_13_ASD_discovery_cases-case04HI3498A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PIGB,CCPG1
 
 poultney_13_ASD_discovery_cases-case99HI0802A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CGNL1
 
 prasad_12_ASD_discovery_cases-case115816L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1213-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RNU6-844P,CGNL1
 
 sanders_11_ASD_discovery_cases-11013.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11017.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 NEDD4
 
 sanders_11_ASD_discovery_cases-11031.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11038.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11050.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11060.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11089.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11092.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11141.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11154.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11232.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11309.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11329.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-844P,CGNL1
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11357.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11364.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11371.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11437.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 UNC13C
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 UNC13C
 
 sanders_11_ASD_discovery_cases-11462.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11490.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11540.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11541.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11549.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11597.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11598.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11664.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11691.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11707.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11765.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11781.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11812.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11843.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11860.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11895.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11966.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GCOM1,MYZAP
 
 sanders_11_ASD_discovery_cases-12011.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12030.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12051.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 UNC13C
 
 sanders_11_ASD_discovery_cases-12061.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12097.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12115.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NEDD4
 
 sanders_11_ASD_discovery_cases-12154.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12170.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12185.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12189.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12255.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12295.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-844P,CGNL1
 
 sanders_11_ASD_discovery_cases-12295.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12303.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12316.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12320.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12418.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12423.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12429.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RNU6-844P,CGNL1
 
 sanders_11_ASD_discovery_cases-12445.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12472.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12477.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12478.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12484.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12497.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12517.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12536.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12606.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DNAAF4-CCPG1,DNAAF4
 
 sanders_11_ASD_discovery_cases-12618.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12631.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12642.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12647.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12648.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12661.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12664.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12667.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12671.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12682.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12729.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12754.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RNU6-844P,CGNL1
 
 sanders_11_ASD_discovery_cases-12754.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12784.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 UNC13C
 
 sanders_11_ASD_discovery_cases-12821.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12837.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-844P,CGNL1
 
 sanders_11_ASD_discovery_cases-12851.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12871.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12902.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU2-53P,WDR72
 
 sanders_11_ASD_discovery_cases-12925.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12939.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12941.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12944.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13006.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13021.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13023.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13035.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13065.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13082.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13150.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RNU6-844P,CGNL1
 
 sanders_11_ASD_discovery_cases-13152.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13175.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13195.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13367.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB289384_1007874635
 
 
  Unknown
 
 
  RNU6-844P,CGNL1
 
engchuan_15_ASD_discovery_controls-controlB289384_1007874635
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB291419_1007842029
 
 
  Unknown
 
 
  PRTG,PYGO1
 
engchuan_15_ASD_discovery_controls-controlB427853_1007853576
 
 
  Unknown
 
 
  RNU6-844P,CGNL1
 
engchuan_15_ASD_discovery_controls-controlB437844_1007854382
 
 
  Unknown
 
 
  PIGBOS1,PIGB,RAB27A
 
engchuan_15_ASD_discovery_controls-controlB439994_1007852600
 
 
  Unknown
 
 
  PRTG,PYGO1
 
engchuan_15_ASD_discovery_controls-controlB495273_1007872860
 
 
  Unknown
 
 
  RNU6-844P,CGNL1
 
engchuan_15_ASD_discovery_controls-controlB533652_1007873177
 
 
  Unknown
 
 
  TCF12
 
engchuan_15_ASD_discovery_controls-controlB667696_1007873586
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB754328_1007852652
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB885552_1007853677
 
 
  Unknown
 
 
  HMGB1P33,TEX9
 
engchuan_15_ASD_discovery_controls-controlHABC_900036_900036
 
 
  Unknown
 
 
  UNC13C
 
engchuan_15_ASD_discovery_controls-controlHABC_900279_900279
 
 
  Unknown
 
 
  RN7SL568P,CD24P2
 
engchuan_15_ASD_discovery_controls-controlHABC_900558_900558
 
 
  Unknown
 
 
  RNU6-844P,CGNL1
 
engchuan_15_ASD_discovery_controls-controlHABC_900584_900584
 
 
  Unknown
 
 
  RNU6-844P,CGNL1,GCOM1,MYZAP
 
engchuan_15_ASD_discovery_controls-controlHABC_900876_900876
 
 
  Unknown
 
 
  RNU6-844P,CGNL1
 
engchuan_15_ASD_discovery_controls-controlHABC_900995_900995
 
 
  Unknown
 
 
  CCPG1,C15orf65,DNAAF4-CCPG1,DNAAF4
 
engchuan_15_ASD_discovery_controls-controlHABC_902577_902577
 
 
  Unknown
 
 
  RNU6-844P,CGNL1
 
engchuan_15_ASD_discovery_controls-controlHABC_902951_902951
 
 
  Unknown
 
 
 
 
krumm_13_ASD_discovery_controls-control12295.s1
 
 
  Maternal
  Simplex
 
  CGNL1
 
krumm_15_ASD_discovery_controls-control11030.s1
  Illumina 1M
 
  Maternal
 
 
  WDR72
 
krumm_15_ASD_discovery_controls-control11413.s1
  Illumina 1M
 
  Maternal
 
 
  PIGBOS1,PIGB,CCPG1,RSL24D1,RAB27A,DNAAF4-CCPG1
 
krumm_15_ASD_discovery_controls-control12295.s1
  Illumina 1MDuo
 
  Maternal
 
 
  CGNL1
 
krumm_15_ASD_discovery_controls-control12676.s1
  Illumina 1MDuo
 
  Maternal
 
 
  CGNL1
 
krumm_15_ASD_discovery_controls-control13456.s1
  1M-Duov3
 
  Paternal
 
 
  CGNL1
 
leblond_19_ASD_discovery_controls-controlPN400281
 
 
  Unknown
 
 
  CGNL1
 
levy_11_ASD_discovery_controls-11030.s1
 
 
  Maternal
  Simplex
  NA
  WDR72
 
levy_11_ASD_discovery_controls-11236.s1
 
 
  Paternal
  Simplex
  NA
  HMGB1P33,TEX9
 
levy_11_ASD_discovery_controls-11413.s1
 
 
  Maternal
  Simplex
  NA
  PIGBOS1,PIGB,CCPG1,RSL24D1,RAB27A,DNAAF4-CCPG1
 
levy_11_ASD_discovery_controls-11439.s1
 
 
  Paternal
  Simplex
  NA
  UNC13C
 
poultney_13_ASD_discovery_controls-control04C28484A
 
 
  Unknown
 
 
  UNC13C
 
sanders_11_ASD_discovery_controls-11013.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11030.s1
 
 
  Maternal
  Simplex (quad)
  NA
  WDR72
 
sanders_11_ASD_discovery_controls-11031.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11045.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11051.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11054.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11086.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11089.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11092.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11141.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11159.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11176.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11196.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11200.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11219.s1
 
 
  Maternal
  Simplex (quad)
  NA
  UNC13C
 
sanders_11_ASD_discovery_controls-11233.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11258.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11284.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11289.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11334.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11357.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11364.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11393.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11395.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11396.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11413.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PIGBOS1,PIGB,CCPG1,RSL24D1,RAB27A,DNAAF4-CCPG1
 
sanders_11_ASD_discovery_controls-11439.s1
 
 
  Paternal
  Simplex (quad)
  NA
  UNC13C
 
sanders_11_ASD_discovery_controls-11441.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11462.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11479.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11490.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11499.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11540.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11541.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11549.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11572.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11597.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11707.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11766.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11860.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11895.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11913.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11963.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11984.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11998.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12051.s1
 
 
  Maternal
  Simplex (quad)
  NA
  UNC13C
 
sanders_11_ASD_discovery_controls-12051.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12115.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NEDD4
 
sanders_11_ASD_discovery_controls-12153.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12154.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12170.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12175.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12185.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12220.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12255.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12295.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-844P,CGNL1
 
sanders_11_ASD_discovery_controls-12295.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12313.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12317.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12403.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12418.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12420.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12438.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12445.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12478.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12517.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12536.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12540.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12565.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12572.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12618.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12646.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12661.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GCOM1,MYZAP
 
sanders_11_ASD_discovery_controls-12676.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-844P,CGNL1
 
sanders_11_ASD_discovery_controls-12729.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12821.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12931.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RNU6-1287P,TEX9
 
sanders_11_ASD_discovery_controls-12939.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12944.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TCF12
 
sanders_11_ASD_discovery_controls-13006.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13082.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13193.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13195.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

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