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16p12.1CNV Type: Deletion-Duplication


Largest CNV size: 802555 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
Structural variation of chromosomes in autism spectrum disorder.
Deletion
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...
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Genome-wide characteristics of de novo mutations in autism
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 asadollahi_14_NDD_discovery_cases
 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
 714
 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
 N/A
 N/A
 4000
 1
 0
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 315
 1
 0
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 282541
 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
 562708
 14
 1
 15
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 772930
 0
 2
 2
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 490000
 56
 16
 72
 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
 107511
 7
 0
 7
 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
 808273
 17
 4
 21
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 159841
 1
 2
 3
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 499957
 0
 1
 1
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 507294
 1
 1
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 491796
 1
 3
 4
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 802555
 1
 0
 1
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 67700
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 562709
 4
 0
 4
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 496394
 2
 0
 2
 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
 62375
 0
 1
 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
 476469
 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
 486519
 17
 4
 21
 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
 456000
 1
 0
 1
 yuen_16_ASD_discovery_cases
 Cases from unrelated trio families from a cohort of Canadian ASD families
 200
 Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
 N/A
 N/A
 11979
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 604283
 26
 3
 29
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 73853
 1
 0
 1
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 490000
 3
 1
 4
 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
 107511
 10
 0
 10
 itsara_10_ASD_discovery_controls_1
 Unaffected siblings of ASD probands from multiplex (n=368) and simplex (n=59) families from AGRE collection
 427
 Controls: Unaffected or Not Met
 
 
 474576
 0
 1
 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_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 95420
 1
 2
 3
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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)
 62375
 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.
 
 90777
 9
 1
 10
 yuen_16_ASD_discovery_controls
 CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 asadollahi_14_NDD_discovery_cases
  Predominantly European
 Array SNP
  Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
 HMM
 Affymetrix ChAS v.1.0.1
 MLPA
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 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_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 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)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 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
 
 
 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
 yuen_16_ASD_discovery_cases
  Canada
 N/A
  High-resolution microarray platform
 
 Segseq, ERDS
 qPCR, Sanger sequencing

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_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  None
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  itsara_10_ASD_discovery_controls_1
 
  Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
  HMM
  Illumina GenomeStudio
  aCGH (custom NimbleGen 12 X 135)
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  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
 
 
  yuen_16_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  asadollahi_14_NDD_discovery_cases-case60984
 4 yrs.
 F
 Developmental delay
 Developmental delay, growth hormone deficiency, celiac disease, hypoplastic left kidney
 
 24874320
 24878290
  3971
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11399
 NA
 M
 ASD
 NA
 NA
 24729556
 24729871
  316
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU026803
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 22328822
 22611363
  282541
 Unknown
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14071_1240
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21869594
 22432302
  562709
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14315_4320
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22610469
 22698442
  87974
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14325_4390
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22634371
 22698442
  64072
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14335_4490
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21937801
 22424490
  486690
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16081_1571071001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22634371
 22698442
  64072
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18108_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22600609
 22703259
  102651
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case21003_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22600609
 22703259
  102651
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3174_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21935909
 22424490
  488582
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3385_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22552697
 22703259
  150563
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3601_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22610469
 22698442
  87974
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5366_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22552697
 22698442
  145746
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6043_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22611476
 22698442
  86967
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6261_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21935909
 22412377
  476469
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8491_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22614315
 22698442
  84128
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8514_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21937801
 22432302
  494502
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si163
 8
 M
 Autism
 ADOS score: 7. Vineland composite score: 63.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.
 22545515
 22693152
  147638
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si165
 14
 M
 Autism
 ADOS score: 8. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 98; Non-verbal IQ, 127.
 22619299
 22704589
  85291
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si172
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 148; Verbal IQ, 113; Non-verbal IQ, 158.
 22545515
 22693152
  147638
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si175
 16
 F
 Autism
 ADOS score: 5. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
 22545515
 22693152
  147638
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si19
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 101; Non-verbal IQ, 95.
 22545515
 22693152
  147638
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si2
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 79.
 No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 95; Non-verbal IQ, 81.
 22619299
 22703361
  84063
 GRCh38
 Deletion
 Yes
  girirajan_11_ASD_discovery_cases-Si224
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.
 22619795
 22686243
  66449
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si225
 11
 F
 Autism
 ADOS score: 8. Vineland composite score: 69.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
 22545515
 22703361
  157847
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si236
 13
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 98; Non-verbal IQ, 102.
 22545515
 22693152
  147638
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si237
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 104; Non-verbal IQ, 108.
 22545515
 22693152
  147638
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si247
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 57.
 No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 46; Non-verbal IQ, 93.
 22103465
 22348814
  245350
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si254
 12
 F
 Autism
 ADOS score: 6. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
 22585641
 22693152
  107512
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si296
 18
 M
 Autism
 ADOS score: NA. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 141; Verbal IQ, 143; Non-verbal IQ, 132.
 22545515
 22693152
  147638
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si306
 14
 M
 Autism
 ADOS score: 6. Vineland composite score: 59.
 Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 26; Non-verbal IQ, 36.
 22545515
 22686243
  140729
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si318
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.
 22545515
 22703361
  157847
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si346
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 77; Non-verbal IQ, 92.
 22585641
 22693152
  107512
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si61
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 67.
 No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 128; Non-verbal IQ, 106.
 22545515
 22693152
  147638
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si66
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 64.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.
 22545515
 22693152
  147638
 GRCh38
 Deletion
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case1023
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1024
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1025
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1026
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1027
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1028
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1029
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1030
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1031
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1032
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1033
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1034
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1035
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1036
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1037
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1038
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1039
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1040
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1041
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1042
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1043
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1044
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1045
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1046
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1047
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1048
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1049
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1050
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1051
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1052
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1053
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1054
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1055
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1056
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1057
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1058
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1059
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1060
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1061
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1062
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1063
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1064
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1065
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1066
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1067
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1068
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1069
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1070
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1071
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1072
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1073
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1074
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1075
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1076
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1077
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1078
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1079
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1080
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1081
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1082
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1083
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1084
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1085
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1086
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case24781
 NA
 NA
 Developmental delay
 NA
 Developmental delay
 21931178
 22421178
  490001
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case30323
 NA
 NA
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case31898
 NA
 NA
 Developmental delay
 Dysmorphic features, seizure disorder
 Developmental delay
 21931178
 22421178
  490001
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case34937
 NA
 NA
 Developmental delay
 Trisomy 21.
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case39259
 NA
 NA
 ASD
 Autistic disorder
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case42977
 NA
 M
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case43670
 NA
 M
 Developmental delay
 NA
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case52882
 NA
 NA
 Developmental delay
 Unbalanced translocation: inherited a supernumerary chromosome made up of 9p, 9cen, 15p - mom is balanced carrier
 NA
 21931178
 22421178
  490001
 GRCh38
 Deletion
 Yes
  girirajan_13b_ASD_discovery_cases-1709110692
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 22585641
 22693152
  107512
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-21908109957
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22585641
 22693152
  107512
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-24609111458
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 22585641
 22693152
  107512
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-3007107649
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22585641
 22693152
  107512
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-8905102822
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22585641
 22686243
  100603
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-909110667
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22585641
 22693152
  107512
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-9106105625
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22619299
 22693152
  73854
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001036
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001053
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002211
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21973700
 22396610
  422911
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003783
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004048
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004147
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22358401
  532231
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004158
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21940058
 22396610
  456553
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004174
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004181
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004475
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004665
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004722
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21794978
 22396610
  601633
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004842
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004950
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21825971
 22396751
  570781
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005165
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22634444
  808274
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005252
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22055774
 22634444
  578671
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005266
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005277
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21826171
 22396610
  570440
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005423
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22755932
 23546240
  790309
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11458.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 24875626
 24911533
  35908
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12302.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 25217045
 25253037
  35993
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14017.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 27066995
 27226836
  159842
 GRCh38
 Duplication
 Yes
  kushima_18_ASD_discovery_cases-caseASD0073
 39 yrs.
 M
 ASD, ADHD
 Developmental milestones: motor delay. Behavioral/psychiatric evaluation: ADHD, sensory hypersensitivity, mood disorders (depressive symptoms), arm waving. Family history: negative.
 IQ > 70
 21928119
 22428075
  499957
 GRCh38
 Duplication
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0601
 49 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 21928119
 22428075
  499957
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0921
 50 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 37 years of age (core symptoms include auditory hallucinations, persecutory delusions, depressive and manic symptoms), mood symptoms. Congenital and developmental phenotypes: low birth weight. Family history: negative.
 IQ > 70
 21928119
 22435412
  507294
 GRCh38
 Duplication
 N/A
  levy_11_ASD_discovery_cases-11030.p1
 NA
 M
 ASD
 NA
 NA
 22739140
 22834559
  95420
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11458.p1
 NA
 M
 ASD
 NA
 NA
 24874369
 24918266
  43898
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11775.p1
 NA
 M
 ASD
 NA
 NA
 27042447
 27076495
  34049
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11834.p1
 NA
 M
 ASD
 NA
 NA
 21937146
 22428941
  491796
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-MM0289-003
 NA
 F
 ASD
 Language delay, moderate repetitive behavior
 IQ/LOF 45
 21889986
 22692541
  802556
 GRCh38
 Deletion
 Yes
  morrow_08_ASD_discovery_cases-case3301
 NA
 
 ASD
 NA
 NA
 22534000
 22602000
  67700
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case14071_1240
 NA
 M
 Autism
 Phrase speech delay, neurodevelopmental delay with onset at 2 y, no dysmorphic features, no epilepsy, sleep problems
 Mild MR
 21869594
 22432302
  562709
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case3174_003
 NA
 M
 Autism
 Language delay, some gross and fine motor coordination difficulties, no dysmorphic features or associated medical or psychiatric problems, no epilepsy. Brother with 16p12.1 CNV: Autism, low average IQ, language delay, some mild dysmorphic facial features, no epilepsy
 Low average IQ
 21935909
 22424490
  488582
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5366_5
 NA
 M
 ASD
 NA
 NA
 22552697
 22698442
  145746
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case6261_3
 NA
 M
 Autism
 Language delay, hearing deficit detected at 1 yr, treated with hearing aid, audiogram at 4 yrs normal; normal physical exam, no epilepsy, normal brain CT
 Mild MR
 21935909
 22412377
  476469
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case14335_4490
 N/A
 M
 ASD
 Autism (based on ADI-R and ADOS), language delay, no functional language, no epilepsy. Family history: N/A.
 Average non-verbal development (Griffiths: language DQ 36, performance DQ 98, global DQ 67).
 21940094
 22413473
  473380
 GRCh38
 Deletion
 No
  pinto_14_ASD_discovery_cases2-case9809_202
 N/A
 M
 ASD
 Autism (based on ADI-R and ADOS), no language delay, verbal, seizures
 mild ID (WPPSI-III: VIQ 67, PIQ 65, FSIQ 66)
 21940094
 22413473
  473380
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case139459L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 22625580
 22687954
  62375
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-146a1
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 21935909
 22412377
  476469
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11030.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
 22739394
 22833372
  93979
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11458.p1
 16.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
 24876794
 24918154
  41361
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11506.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
 23580394
 23601399
  21006
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11693.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
 25909777
 25976172
  66396
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11775.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
 27039896
 27069589
  29694
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11834.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
 21952043
 22438562
  486520
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 25552359
 25572061
  19703
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 25552359
 25572061
  19703
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12076.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
 25552359
 25572061
  19703
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12271.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40
 23587628
 23634027
  46400
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12289.p1
 12.2
 M
 ASD
 NA
 Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86
 23587628
 23601399
  13772
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12366.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
 27226789
 27228698
  1910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12534.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
 25552359
 25572061
  19703
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 23580394
 23601399
  21006
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12674.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
 25552359
 25572061
  19703
 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
 24459392
 24466084
  6693
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12843.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
 23591804
 23597561
  5758
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12930.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
 23587628
 23601399
  13772
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13018.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
 25552359
 25567291
  14933
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13031.p1
 5.1
 F
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 25552359
 25572061
  19703
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13174.p1
 10
 M
 Aspergers
 NA
 Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
 25552359
 25572061
  19703
 GRCh38
 Deletion
 No
  xu_16_ASD/DD/ID_discovery_cases-case22
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
 
 21964406
 22420037
  455632
 GRCh38
 Deletion
 No
  yuen_16_ASD_discovery_cases-sample2-1361-003
 N/A
 N/A
 ASD
 Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
 
 26182048
 26194026
  11979
 GRCh38
 Deletion
 Yes

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-controlB425638_1007872643
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21828019
  22432302
  604284
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB483586_1007842342
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22552697
  22698442
  145746
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB490963_1007853895
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22597686
  22698442
  100757
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB536568_1007854032
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22552697
  22698442
  145746
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB624090_1007853967
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22597686
  22698442
  100757
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB709920_1007843547
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22552697
  22698442
  145746
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB779589_1007853847
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22575272
  22698442
  123171
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB886417_1007872528
  N/A
  N/A
  Control
  No previous psychiatric history
 
  27608774
  27650260
  41487
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB910439_1007845334
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22572406
  22698442
  126037
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB916582_1007854385
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22552697
  22698442
  145746
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB957019_1007844002
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22552697
  22698442
  145746
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB972803_1007842434
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22589203
  22698442
  109240
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB988624_1007854912
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22552697
  22698442
  145746
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900349_900349
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22620078
  22698442
  78365
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900353_900353
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22376973
  22432302
  55330
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22600609
  22698442
  97834
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22614315
  22698442
  84128
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900927_900927
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22600609
  22698442
  97834
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900989_900989
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22600609
  22698442
  97834
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901007_901007
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22614315
  22698442
  84128
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901219_901219
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22622631
  22698442
  75812
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22622631
  22698442
  75812
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902481_902481
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22610469
  22702291
  91823
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22622631
  22698442
  75812
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902564_902564
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22622631
  22698442
  75812
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902571_902571
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22614315
  22698442
  84128
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902611_902611
  N/A
  N/A
  Control
  No previous psychiatric history
 
  26203871
  26240251
  36381
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22597902
  22698442
  100541
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902800_902800
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21955548
  22432302
  476755
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_223
  NA
  NA
  Control
  NA
  NA
  22619299
  22693152
  73854
  GRCh38
  Deletion
  No
  girirajan_12_ASD/DD/ID_discovery_controls-control91
  NA
  NA
  Control
  NA
  NA
  21931178
  22421178
  490001
  GRCh38
  Deletion
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control92
  NA
  NA
  Control
  NA
  NA
  21931178
  22421178
  490001
  GRCh38
  Deletion
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control93
  NA
  NA
  Control
  NA
  NA
  21931178
  22421178
  490001
  GRCh38
  Deletion
  NA
  girirajan_12_ASD/DD/ID_discovery_controls-control94
  NA
  NA
  Control
  NA
  NA
  21931178
  22421178
  490001
  GRCh38
  Duplication
  NA
  girirajan_13b_ASD_discovery_controls-10608109423
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  22585641
  22693152
  107512
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-1105102542
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  22619299
  22693152
  73854
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-11105103556
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  22585641
  22693152
  107512
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-17203100441
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  22585641
  22686243
  100603
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-33505103850
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  22585641
  22693152
  107512
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-35706106616
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  22619299
  22693152
  73854
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-42606106877
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  22585641
  22693152
  107512
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-46806107025
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  22619299
  22693152
  73854
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-49206107109
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  22585641
  22686243
  100603
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-9507107845
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  22585641
  22693152
  107512
  GRCh38
  Deletion
  No
  itsara_10_ASD_discovery_controls_1-HI0267
  NA
  NA
  Unaffected
  NA
  NA
  21937801
  22412377
  474577
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11030.s1
  NA
  F
  Control
  NA
  NA
  22739140
  22834559
  95420
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11775.s1
  NA
  F
  Control
  NA
  NA
  27042447
  27076495
  34049
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12100.s1
  NA
  F
  Control
  NA
  NA
  23062706
  23106250
  43545
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11030.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  22739394
  22830171
  90778
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11720.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  23578665
  23629146
  50482
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  27042840
  27069589
  26750
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12517.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  23587628
  23598069
  10442
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12552.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  25552359
  25567291
  14933
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12621.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  23877519
  23890055
  12537
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12674.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  25552359
  25572061
  19703
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12892.s1
  15.4
  F
  Control (matched sibling)
  NA
  NA
  23587628
  23598069
  10442
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13166.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  25552359
  25567291
  14933
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  23587628
  23598069
  10442
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 asadollahi_14_NDD_discovery_cases-case60984
 MLPA
 
 Maternal
 Unknown
 Unknown
 SLC5A11
 
 celestino-soper_11_ASD_discovery_cases-11399
 
 
 Unknown
 Simplex
 NA
 TNRC6A
 
 davis_09_ASD_discovery_cases-AU026803
 
 
 Unknown
 Unknown
 Unknown
 LOC23117
 
 engchuan_15_ASD_discovery_cases-case14071_1240
 
 
 Unknown
 
 
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 engchuan_15_ASD_discovery_cases-case14315_4320
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14325_4390
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14335_4490
 
 
 Unknown
 
 
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 engchuan_15_ASD_discovery_cases-case16081_1571071001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case18108_302
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case21003_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3174_3
 
 
 Unknown
 
 
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 engchuan_15_ASD_discovery_cases-case3385_3
 
 
 Unknown
 
 
 OTOAP1
 
 engchuan_15_ASD_discovery_cases-case3601_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5366_5
 
 
 Unknown
 
 
 OTOAP1
 
 engchuan_15_ASD_discovery_cases-case6043_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6261_3
 
 
 Unknown
 
 
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
 
 engchuan_15_ASD_discovery_cases-case8491_202
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8514_202
 
 
 Unknown
 
 
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_11_ASD_discovery_cases-Si163
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si165
 
 
 Unknown
 Simplex
 
 
 
 girirajan_11_ASD_discovery_cases-Si172
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si175
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si19
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si2
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 
 
 girirajan_11_ASD_discovery_cases-Si224
 
 
 Unknown
 Simplex
 
 
 
 girirajan_11_ASD_discovery_cases-Si225
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si236
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si237
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si247
 
 
 Unknown
 Simplex
 
 SDR42E2,POLR3E,VWA3A,EEF2K,CDR2
 
 girirajan_11_ASD_discovery_cases-Si254
 
 
 Unknown
 Simplex
 
 
 
 girirajan_11_ASD_discovery_cases-Si296
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si306
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si318
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si346
 
 
 Unknown
 Simplex
 
 
 
 girirajan_11_ASD_discovery_cases-Si61
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_11_ASD_discovery_cases-Si66
 
 
 Unknown
 Simplex
 
 OTOAP1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1023
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1024
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1025
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1026
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1027
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1028
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1029
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1030
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1031
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1032
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1033
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1034
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1035
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1036
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1037
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1038
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1039
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1040
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1041
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1042
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1043
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1044
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1045
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1046
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1047
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1048
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1049
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1050
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1051
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1052
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1053
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1054
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1055
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1056
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1057
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1058
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1059
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1060
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1061
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1062
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1063
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1064
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1065
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1066
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1067
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1068
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1069
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1070
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1071
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1072
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1073
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1074
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1075
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1076
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1077
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1078
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1079
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1080
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1081
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1082
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1083
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1084
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1085
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1086
 NA
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case24781
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case30323
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case31898
 FISH, aCGH, or confirmation by inheritance
 
 Paternal
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case34937
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case39259
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case42977
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case43670
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_12_ASD/DD/ID_discovery_cases-case52882
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 girirajan_13b_ASD_discovery_cases-1709110692
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-21908109957
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-24609111458
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-3007107649
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-8905102822
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-909110667
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-9106105625
 
 
 Unknown
 Unknown
 Unknown
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001036
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001053
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002211
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003783
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004048
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004147
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004158
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004174
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004181
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004475
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004665
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004722
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004842
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004950
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005165
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005252
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005266
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005277
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005423
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SUB1P4,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,SCNN1G,SCNN1B,USP31
 
 krumm_15_ASD_discovery_cases-case11458.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SLC5A11
 
 krumm_15_ASD_discovery_cases-case12302.p1
 1M-Duov3
 
 De novo
 Simplex
 Segregated
 AQP8,ZKSCAN2
 
 krumm_15_ASD_discovery_cases-case14017.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 C16orf82,EEF1A1P38,LINC02129,KDM8,NSMCE1
 
 kushima_18_ASD_discovery_cases-caseASD0073
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Simplex
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 kushima_18_SCZ_discovery_cases-caseSCZ0601
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 kushima_18_SCZ_discovery_cases-caseSCZ0921
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Simplex
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 levy_11_ASD_discovery_cases-11030.p1
 
 
 Maternal
 Simplex
 Not segregated
 HS3ST2
 
 levy_11_ASD_discovery_cases-11458.p1
 
 
 Maternal
 Simplex
 Segregated
 SLC5A11
 
 levy_11_ASD_discovery_cases-11775.p1
 
 
 Maternal
 Simplex
 Not segregated
 C16orf82
 
 levy_11_ASD_discovery_cases-11834.p1
 
 
 Paternal
 Simplex
 Segregated
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 marshall_08_ASD_discovery_cases-MM0289-003
 qPCR, qmPCR
 
 Maternal
 Multiplex
 NA
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 morrow_08_ASD_discovery_cases-case3301
 
 
 Maternal
 NA
 NA
 5' end of HS3ST2
 
 pinto_10_ASD_discovery_cases-case14071_1240
 qPCR-Paternal
 
 paternal
 NA
 NA
 NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
 pinto_10_ASD_discovery_cases-case3174_003
 qPCR-Paternal,Agilent1M
 
 paternal
 Multiplex
 Segregated
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 pinto_10_ASD_discovery_cases-case5366_5
 Agilent1M
 
 pcnv-maternal
 NA
 NA
 OTOAP1
 
 pinto_10_ASD_discovery_cases-case6261_3
 qPCR-Maternal
 
 maternal
 NA
 NA
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
 
 pinto_14_ASD_discovery_cases2-case14335_4490
 Validation not attempted
 
 Maternal
 Simplex
 Unknown (not tested)
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
 
 pinto_14_ASD_discovery_cases2-case9809_202
 Validation not attempted
 
 Unknown (not maternal)
 Simplex
 (not tested)
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
 
 prasad_12_ASD_discovery_cases-case139459L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-146a1
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
 
 sanders_11_ASD_discovery_cases-11030.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HS3ST2
 
 sanders_11_ASD_discovery_cases-11458.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SLC5A11
 
 sanders_11_ASD_discovery_cases-11506.p1
 
 
 Maternal
 Simplex (trio)
 NA
 NDUFAB1
 
 sanders_11_ASD_discovery_cases-11693.p1
 
 
 Maternal
 Simplex (trio)
 NA
 HS3ST4
 
 sanders_11_ASD_discovery_cases-11775.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C16orf82
 
 sanders_11_ASD_discovery_cases-11834.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,VWA3A,EEF2K,CDR2,MOSMO
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12076.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12271.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 PALB2,NDUFAB1
 
 sanders_11_ASD_discovery_cases-12289.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 NDUFAB1
 
 sanders_11_ASD_discovery_cases-12366.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 NSMCE1
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 NDUFAB1
 
 sanders_11_ASD_discovery_cases-12674.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12682.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12843.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 NDUFAB1
 
 sanders_11_ASD_discovery_cases-12930.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 NDUFAB1
 
 sanders_11_ASD_discovery_cases-13018.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13031.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13174.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 xu_16_ASD/DD/ID_discovery_cases-case22
 
 
 Paternal
 
 
 UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
 yuen_16_ASD_discovery_cases-sample2-1361-003
 qPCR and/or Sanger sequencing
 
 De novo
 Simplex
 Segregated
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB425638_1007872643
 
 
  Unknown
 
 
  NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
 
engchuan_15_ASD_discovery_controls-controlB483586_1007842342
 
 
  Unknown
 
 
  OTOAP1
 
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB536568_1007854032
 
 
  Unknown
 
 
  OTOAP1
 
engchuan_15_ASD_discovery_controls-controlB624090_1007853967
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB709920_1007843547
 
 
  Unknown
 
 
  OTOAP1
 
engchuan_15_ASD_discovery_controls-controlB779589_1007853847
 
 
  Unknown
 
 
  OTOAP1
 
engchuan_15_ASD_discovery_controls-controlB886417_1007872528
 
 
  Unknown
 
 
  KIAA0556
 
engchuan_15_ASD_discovery_controls-controlB910439_1007845334
 
 
  Unknown
 
 
  OTOAP1
 
engchuan_15_ASD_discovery_controls-controlB916582_1007854385
 
 
  Unknown
 
 
  OTOAP1
 
engchuan_15_ASD_discovery_controls-controlB957019_1007844002
 
 
  Unknown
 
 
  OTOAP1
 
engchuan_15_ASD_discovery_controls-controlB972803_1007842434
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB988624_1007854912
 
 
  Unknown
 
 
  OTOAP1
 
engchuan_15_ASD_discovery_controls-controlHABC_900349_900349
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900353_900353
 
 
  Unknown
 
 
  MFSD13B,RRN3P3,CDR2
 
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900927_900927
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900989_900989
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901007_901007
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901219_901219
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902481_902481
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902564_902564
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902571_902571
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902611_902611
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902800_902800
 
 
  Unknown
 
 
  UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
girirajan_11_ASD_discovery_controls-NIMH_223
 
 
  Unknown
 
 
 
 
girirajan_12_ASD/DD/ID_discovery_controls-control91
  NA
 
  Unknown
  Unknown
  Unknown
  UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
girirajan_12_ASD/DD/ID_discovery_controls-control92
  NA
 
  Unknown
  Unknown
  Unknown
  UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
girirajan_12_ASD/DD/ID_discovery_controls-control93
  NA
 
  Unknown
  Unknown
  Unknown
  UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
girirajan_12_ASD/DD/ID_discovery_controls-control94
  NA
 
  Unknown
  Unknown
  Unknown
  UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
 
girirajan_13b_ASD_discovery_controls-10608109423
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-1105102542
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-11105103556
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-17203100441
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-33505103850
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-35706106616
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-42606106877
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-46806107025
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-49206107109
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-9507107845
 
 
  Unknown
 
 
 
 
itsara_10_ASD_discovery_controls_1-HI0267
  aCGH (custom NimbleGen 12 X 135)
 
  De novo
  Multiplex
 
  UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
 
levy_11_ASD_discovery_controls-11030.s1
 
 
  Maternal
  Simplex
  NA
  HS3ST2
 
levy_11_ASD_discovery_controls-11775.s1
 
 
  Maternal
  Simplex
  NA
  C16orf82
 
levy_11_ASD_discovery_controls-12100.s1
 
 
  Paternal
  Simplex
  NA
  USP31
 
sanders_11_ASD_discovery_controls-11030.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HS3ST2
 
sanders_11_ASD_discovery_controls-11720.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PALB2,NDUFAB1
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C16orf82
 
sanders_11_ASD_discovery_controls-12517.s1
 
 
  Unknown
  Simplex (quad)
  NA
  NDUFAB1
 
sanders_11_ASD_discovery_controls-12552.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12621.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PRKCB
 
sanders_11_ASD_discovery_controls-12674.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12892.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFAB1
 
sanders_11_ASD_discovery_controls-13166.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Unknown
  Simplex (quad)
  NA
  NDUFAB1
 

No Animal Model Data Available
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