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19q13.31CNV Type: Deletion-Duplication


Largest CNV size: 589075 bp

Statistics Box:
Number of Reports: 19


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
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
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 185711
 17
 3
 20
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 184541
 1
 0
 1
 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.
 
 
 582248
 8
 1
 9
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 766000
 2
 0
 2
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 582248
 9
 0
 9
 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
 514932
 2
 3
 5
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 169239
 4
 0
 4
 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
 2517
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 81111
 6
 1
 7
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 589075
 1
 1
 2
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 53205
 1
 0
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 N/A
 3
 3
 6
 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
 39502
 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
 
 
 34503
 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)
 503489
 1
 4
 5
 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
 78164
 0
 2
 2
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 159893
 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
 205794
 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
 76569
 8
 1
 9

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
 203363
 18
 1
 19
 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.
 
 
 582248
 0
 0
 0
 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
 582916
 11
 0
 11
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 48711
 1
 0
 1
 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
 2517
 2
 0
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 2517
 3
 1
 4
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 589075
 1
 1
 2
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 0
 0
 0
 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)
 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)
 78164
 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.
 
 62601
 7
 1
 8

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 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
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 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
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A
 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
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 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
  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
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  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)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  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
  engchuan_15_ASD_discovery_cases-case1116_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43158934
 43344645
  185712
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1240_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43416460
 43450962
  34503
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13157_1743
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43288155
 43344645
  56491
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14234_1920
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43288155
 43344645
  56491
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14234_1920
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43380933
 43457468
  76536
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14329_4430
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43158934
 43344645
  185712
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14350_4640
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43158934
 43344645
  185712
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14394_5030
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43906694
 43987055
  80362
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1947_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43158934
 43344645
  185712
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20032_1226001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43261678
 43335936
  74259
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3098_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43288155
 43344645
  56491
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3098_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43394867
 43457468
  62602
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4243_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43416460
 43450962
  34503
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5273_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43158934
 43344645
  185712
 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)
 
 43158934
 43344645
  185712
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6384_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43380933
 43434336
  53404
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8419_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43158934
 43341441
  182508
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8636_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43158934
 43344645
  185712
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8743_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43394867
 43457468
  62602
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8743_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43286599
 43355513
  68915
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU075308
 
 
 Autism
 
 
 47975960
 48160500
  184541
 Unknown
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si101
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 66.
 Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 30; Non-verbal IQ, 48.
 42723963
 43271530
  547568
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si119
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 84.
 No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 86; Non-verbal IQ, 94.
 42723963
 43069011
  345049
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si17
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 100.
 42723963
 43271530
  547568
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si232
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 71.
 42689282
 43034592
  345311
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si30
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 71.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
 42689282
 43271530
  582249
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si4
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 54.
 Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
 42757621
 43204405
  446785
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si71
 15
 M
 Autism
 ADOS score: 5. Vineland composite score: 96.
 No mental retardation/intellectual disability. Full-scale IQ, 127; Verbal IQ, 128; Non-verbal IQ, 124.
 42723963
 43069011
  345049
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si75
 10
 M
 Autism
 ADOS score: 5. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 84; Non-verbal IQ, 90.
 42757621
 43069011
  311391
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si96
 15
 M
 Autism
 ADOS score: 9. Vineland composite score: 58.
 Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 58; Non-verbal IQ, 55.
 42864807
 43305168
  440362
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU1448301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 44403999
 45174902
  770904
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU3019302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 44403999
 45174902
  770904
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-20604100546
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 42689282
 43204405
  515124
 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
 42689282
 43204405
  515124
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-29905103852
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 42757621
 43069011
  311391
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-3309110754
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 42655366
 43034592
  379227
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-33608110351
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 43001131
 43338887
  337757
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-40406106815
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 42723963
 43271530
  547568
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-45905104126
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 42689282
 43204405
  515124
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-62005104652
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
 N/A
 42689282
 43271530
  582249
 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
 42757621
 43271530
  513910
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000805
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 42738643
 43237158
  498516
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000873
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 42738643
 43237158
  498516
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 42738643
 43237158
  498516
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004184
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 43303334
 43576458
  273125
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005332
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 43338231
 43853163
  514933
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1591
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 43678696
 43835935
  157240
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1592
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 43678696
 43835935
  157240
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1831
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 43647130
 43695840
  48711
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case3062
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 43666697
 43835935
  169239
 Unknown
 Deletion
 No
  krumm_13_ASD_discovery_cases-case13509.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13509. SRS score of 89.
 Full-scale IQ (FSIQ) score of 70.
 43415880
 43418397
  2518
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11141.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 43415880
 43418397
  2518
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11161.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 44217792
 44298903
  81112
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11526.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 43494701
 43497279
  2579
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12461.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 43415880
 43418397
  2518
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13509.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 43415880
 43418397
  2518
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13537.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 43415880
 43418397
  2518
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14210.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 43416098
 43418397
  2300
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11161.p1
 NA
 M
 ASD
 NA
 NA
 44214700
 44308582
  93883
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12366.p1
 NA
 M
 ASD
 NA
 NA
 42706891
 43295965
  589075
 GRCh38
 Deletion
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 43198881
 43252085
  53205
 GRCh38
 Deletion
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient235
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient236
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient237
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient238
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient239
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient240
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Duplication
 N/A
  o'roak_12_ASD_discovery_cases-case11141.p1
 NA
 M
 ASD/Autism
 No additional clinical info available.
 High IQ. Non verbal IQ, 93
 43416460
 43455962
  39503
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case1240_3
 NA
 M
 ASD
 NA
 NA
 43416460
 43450962
  34503
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case01HI2115A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU058304; NDAR ID NDAR_INVUY327HPB)
 
 43353853
 43355783
  1931
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case04HI2957A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
 
 43837053
 44158119
  321067
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 43837053
 44340541
  503489
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0922A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
 
 43837053
 44340541
  503489
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0933A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
 
 43837053
 44289198
  452146
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case103953
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 49040558
 49060330
  19773
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case58016
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 48575060
 48653223
  78164
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_54
 6 yrs.
 M
 Intellectual disability
 Language delay, dysmorphic facial features
 Intellectual disability
 43856051
 44015943
  159893
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 43117005
 43322798
  205794
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11141.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 43416460
 43450962
  34503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11161.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
 44217546
 44294115
  76570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11526.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
 43487828
 43497227
  9400
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12347.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
 43659802
 43661302
  1501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12362.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
 43659802
 43661302
  1501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 43659802
 43661302
  1501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12998.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
 43659802
 43662223
  2422
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
 43659802
 43661302
  1501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13196.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95
 43659802
 43661302
  1501
 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-control110036018513_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036022341_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43288155
  43344645
  56491
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036023786_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB263027_1007875546
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB391087_1007840223
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB438744_1007854063
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB877576_1007874042
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900061_900061
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43416460
  43450962
  34503
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43416460
  43450962
  34503
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900313_900313
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43412564
  43450962
  38399
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900408_900408
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900481_900481
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43286599
  43355513
  68915
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43380933
  43457468
  76536
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901081_901081
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901094_901094
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43362297
  203364
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901260_901260
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43158934
  43344645
  185712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902757_902757
  N/A
  N/A
  Control
  No previous psychiatric history
 
  44174753
  44275635
  100883
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-12110113024
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  42622105
  43069011
  446907
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-20209111301
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  42723963
  43271530
  547568
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-24907108358
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  42723963
  43305168
  581206
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-27309111520
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  42723963
  43271530
  547568
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-30705103901
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  42723963
  43204405
  480443
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-3208108937
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  42792465
  43305168
  512704
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-33006106538
  N/A
  N/A
  Control
  Ethnicity: Asian
  N/A
  42757621
  43238282
  480662
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-40706106823
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  42723963
  43238282
  514320
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-45706106971
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  42723963
  43238282
  514320
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-46506107005
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  42655366
  43069011
  413646
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-9905103520
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  42655366
  43238282
  582917
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split286
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  43647130
  43695840
  48711
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12394.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12394. SRS score of 36.
 
  43415880
  43418397
  2518
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control13509.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13509. SRS score of 44.
 
  43415880
  43418397
  2518
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11208.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  43415880
  43418397
  2518
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13319.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  43415880
  43418397
  2518
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13509.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  43415880
  43418397
  2518
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13537.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  43415880
  43418397
  2518
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11208.s1
  NA
  F
  Control
  NA
  NA
  43398689
  43456953
  58265
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12366.s1
  NA
  F
  Control
  NA
  NA
  42706891
  43295965
  589075
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11208.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  43394867
  43457468
  62602
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  43655981
  43658145
  2165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12106.s1
  10.9
  F
  Control (matched sibling)
  NA
  NA
  43659802
  43661302
  1501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12150.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  43659802
  43661302
  1501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12229.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  43659802
  43661302
  1501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12334.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  42625292
  42630526
  5235
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12343.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  43659802
  43661302
  1501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12832.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  43562706
  43565498
  2793
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case1116_4
 
 
 Unknown
 
 
 CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
 engchuan_15_ASD_discovery_cases-case1240_3
 
 
 Unknown
 
 
 TEX101
 
 engchuan_15_ASD_discovery_cases-case13157_1743
 
 
 Unknown
 
 
 CEACAMP4
 
 engchuan_15_ASD_discovery_cases-case14234_1920
 
 
 Unknown
 
 
 CEACAMP4
 
 engchuan_15_ASD_discovery_cases-case14234_1920
 
 
 Unknown
 
 
 TEX101
 
 engchuan_15_ASD_discovery_cases-case14329_4430
 
 
 Unknown
 
 
 CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
 engchuan_15_ASD_discovery_cases-case14350_4640
 
 
 Unknown
 
 
 CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
 engchuan_15_ASD_discovery_cases-case14394_5030
 
 
 Unknown
 
 
 ZNF45,ZNF221,ZNF155
 
 engchuan_15_ASD_discovery_cases-case1947_301
 
 
 Unknown
 
 
 CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
 engchuan_15_ASD_discovery_cases-case20032_1226001
 
 
 Unknown
 
 
 CEACAMP11,CEACAMP4,PSG9
 
 engchuan_15_ASD_discovery_cases-case3098_3
 
 
 Unknown
 
 
 CEACAMP4
 
 engchuan_15_ASD_discovery_cases-case3098_3
 
 
 Unknown
 
 
 TEX101
 
 engchuan_15_ASD_discovery_cases-case4243_1
 
 
 Unknown
 
 
 TEX101
 
 engchuan_15_ASD_discovery_cases-case5273_3
 
 
 Unknown
 
 
 CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
 engchuan_15_ASD_discovery_cases-case6227_4
 
 
 Unknown
 
 
 CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
 engchuan_15_ASD_discovery_cases-case6384_3
 
 
 Unknown
 
 
 TEX101
 
 engchuan_15_ASD_discovery_cases-case8419_201
 
 
 Unknown
 
 
 CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
 engchuan_15_ASD_discovery_cases-case8636_201
 
 
 Unknown
 
 
 CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
 engchuan_15_ASD_discovery_cases-case8743_202
 
 
 Unknown
 
 
 TEX101
 
 engchuan_15_ASD_discovery_cases-case8743_202
 
 
 Unknown
 
 
 CEACAMP4,CD177
 
 gai_11_ASD_replication_cases-AU075308
 
 
 Inherited
 
 
 PSG10, PSG1, PSG6, PSG7
 
 girirajan_11_ASD_discovery_cases-Si101
 
 
 Unknown
 Simplex
 
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
 girirajan_11_ASD_discovery_cases-Si119
 
 
 Unknown
 Simplex
 
 CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG3
 
 girirajan_11_ASD_discovery_cases-Si17
 
 
 Unknown
 Simplex
 
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
 girirajan_11_ASD_discovery_cases-Si232
 
 
 Unknown
 Simplex
 
 CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,PSG3
 
 girirajan_11_ASD_discovery_cases-Si30
 
 
 Unknown
 Simplex
 
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
 girirajan_11_ASD_discovery_cases-Si4
 
 
 Unknown
 Simplex
 
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4
 
 girirajan_11_ASD_discovery_cases-Si71
 
 
 Unknown
 Simplex
 
 CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG3
 
 girirajan_11_ASD_discovery_cases-Si75
 
 
 Unknown
 Simplex
 
 CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2
 
 girirajan_11_ASD_discovery_cases-Si96
 
 
 Unknown
 Simplex
 
 CEACAMP7,CEACAMP9,CEACAMP11,CEACAMP4,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
 
 girirajan_13a_ASD_discovery_cases-AU1448301
 
 
 Unknown
 Multiplex
 Unknown
 ZNF285B,MIR4531,CEACAM16,BCL3,MIR8085,APOC1,APOC1P1,APOC4,APOC4-APOC2,APOC2,RNU6-611P,EIF5AP3,ZNF180,CEACAM20,IGSF23,PVR,CEACAM19,CBLC,BCAM,NECTIN2,TOMM40,APOE,RELB,CLASRP,ZNF296,PPP1R37,NKPD1,TRAPPC6A,ZNF229,CEACAM22P,CLPTM1,GEMIN7-AS1,GEMIN7,MARK4
 
 girirajan_13a_ASD_discovery_cases-AU3019302
 
 
 Unknown
 Multiplex
 Unknown
 ZNF285B,MIR4531,CEACAM16,BCL3,MIR8085,APOC1,APOC1P1,APOC4,APOC4-APOC2,APOC2,RNU6-611P,EIF5AP3,ZNF180,CEACAM20,IGSF23,PVR,CEACAM19,CBLC,BCAM,NECTIN2,TOMM40,APOE,RELB,CLASRP,ZNF296,PPP1R37,NKPD1,TRAPPC6A,ZNF229,CEACAM22P,CLPTM1,GEMIN7-AS1,GEMIN7,MARK4
 
 girirajan_13b_ASD_discovery_cases-20604100546
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,PSG3
 
 girirajan_13b_ASD_discovery_cases-21908109957
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,PSG3
 
 girirajan_13b_ASD_discovery_cases-29905103852
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2
 
 girirajan_13b_ASD_discovery_cases-3309110754
 
 
 Unknown
 Unknown
 Unknown
 RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,PSG3
 
 girirajan_13b_ASD_discovery_cases-33608110351
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP9,CEACAMP11,CEACAMP4,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
 
 girirajan_13b_ASD_discovery_cases-40406106815
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
 girirajan_13b_ASD_discovery_cases-45905104126
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,PSG3
 
 girirajan_13b_ASD_discovery_cases-62005104652
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
 girirajan_13b_ASD_discovery_cases-909110667
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000805
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000873
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004184
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 CEACAMP4,CD177,CD177P1,LYPD3,TEX101,PHLDB3,ZNF575,XRCC1,ETHE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005332
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CD177,CD177P1,LYPD3,IRGQ,RN7SL368P,IRGC,TEX101,PHLDB3,ZNF575,XRCC1,PINLYP,ZNF576,SRRM5,ZNF428,CADM4,SMG9,LYPD5,ZNF283,ETHE1,PLAUR,KCNN4
 
 kanduri_15_ASD_discovery_cases-case1591
 
 
 Maternal
 Unknown
 Unknown
 PSG4,PSG5,PSG9
 
 kanduri_15_ASD_discovery_cases-case1592
 
 
 Maternal
 Unknown
 Unknown
 PSG4,PSG5,PSG9
 
 kanduri_15_ASD_discovery_cases-case1831
 
 
 Paternal
 Unknown
 Unknown
 PSG5
 
 kanduri_15_ASD_discovery_cases-case3062
 
 
 Paternal
 Unknown
 Unknown
 PSG4,PSG5,PSG9
 
 krumm_13_ASD_discovery_cases-case13509.p1
 
 
 Maternal
 Simplex
 Not segregated
 TEX101
 
 krumm_15_ASD_discovery_cases-case11141.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 TEX101
 
 krumm_15_ASD_discovery_cases-case11161.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 NDUFA3P1,ZNF227,ZNF233,ZNF235
 
 krumm_15_ASD_discovery_cases-case11526.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 PHLDB3
 
 krumm_15_ASD_discovery_cases-case12461.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 TEX101
 
 krumm_15_ASD_discovery_cases-case13509.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TEX101
 
 krumm_15_ASD_discovery_cases-case13537.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TEX101
 
 krumm_15_ASD_discovery_cases-case14210.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TEX101
 
 levy_11_ASD_discovery_cases-11161.p1
 
 
 Maternal
 Simplex
 Segregated
 NDUFA3P1,ZNF227,ZNF233,ZNF235
 
 levy_11_ASD_discovery_cases-12366.p1
 
 
 Paternal
 Simplex
 Not segregated
 CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 PSG4,CEACAMP10,PSG9
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient235
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG9
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient236
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG9
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient237
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG9
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient238
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG9
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient239
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG9
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient240
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG9
 
 o'roak_12_ASD_discovery_cases-case11141.p1
 aCGH, Sanger sequencing
 
 Maternal
 Simplex (quad)
 Unknown
 TEX101
 
 pinto_10_ASD_discovery_cases-case1240_3
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 TEX101
 
 poultney_13_ASD_discovery_cases-case01HI2115A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CD177
 
 poultney_13_ASD_discovery_cases-case04HI2957A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF222,RNU6-902P,ZNF283,ZNF404,ZNF45,ZNF221,ZNF155,ZNF230,ZNF223,ZNF284,ZNF224,ZNF225,ZNF234
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF222,RNU6-902P,NDUFA3P1,ZNF283,ZNF404,ZNF45,ZNF221,ZNF155,ZNF230,ZNF223,ZNF284,ZNF224,ZNF225,ZNF234,ZNF227,ZNF233,ZNF112,ZNF226,ZNF235
 
 poultney_13_ASD_discovery_cases-case99HI0922A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF222,RNU6-902P,NDUFA3P1,ZNF283,ZNF404,ZNF45,ZNF221,ZNF155,ZNF230,ZNF223,ZNF284,ZNF224,ZNF225,ZNF234,ZNF227,ZNF233,ZNF112,ZNF226,ZNF235
 
 poultney_13_ASD_discovery_cases-case99HI0933A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF222,RNU6-902P,ZNF283,ZNF404,ZNF45,ZNF221,ZNF155,ZNF230,ZNF223,ZNF284,ZNF224,ZNF225,ZNF234,ZNF227,ZNF233,ZNF226,ZNF235
 
 prasad_12_ASD_discovery_cases-case103953
 
 
 Unknown
 Unknown
 Unknown
 ZNF283
 
 prasad_12_ASD_discovery_cases-case58016
 
 
 Unknown
 Unknown
 Unknown
 TEX101
 
 quintela_17_DD/ID_discovery_cases-caseID_54
 
 
 Unknown
 
 Unknown
 ZNF404,ZNF45,ZNF221,ZNF155,ZNF230
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
 sanders_11_ASD_discovery_cases-11141.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 TEX101
 
 sanders_11_ASD_discovery_cases-11161.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ZNF227,ZNF233,ZNF235
 
 sanders_11_ASD_discovery_cases-11526.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PHLDB3
 
 sanders_11_ASD_discovery_cases-12347.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RN7SL368P,PLAUR
 
 sanders_11_ASD_discovery_cases-12362.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RN7SL368P,PLAUR
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 RN7SL368P,PLAUR
 
 sanders_11_ASD_discovery_cases-12998.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RN7SL368P,PLAUR
 
 sanders_11_ASD_discovery_cases-13039.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RN7SL368P,PLAUR
 
 sanders_11_ASD_discovery_cases-13196.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RN7SL368P,PLAUR
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036018513_
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-control110036022341_
 
 
  Unknown
 
 
  CEACAMP4
 
engchuan_15_ASD_discovery_controls-control110036023786_
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlB263027_1007875546
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlB391087_1007840223
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlB438744_1007854063
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlB877576_1007874042
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlHABC_900061_900061
 
 
  Unknown
 
 
  TEX101
 
engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
 
 
  Unknown
 
 
  TEX101
 
engchuan_15_ASD_discovery_controls-controlHABC_900313_900313
 
 
  Unknown
 
 
  TEX101
 
engchuan_15_ASD_discovery_controls-controlHABC_900408_900408
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlHABC_900481_900481
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
 
 
  Unknown
 
 
  CEACAMP4,CD177
 
engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
 
 
  Unknown
 
 
  TEX101
 
engchuan_15_ASD_discovery_controls-controlHABC_901081_901081
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlHABC_901094_901094
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,CD177,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlHABC_901260_901260
 
 
  Unknown
 
 
  CEACAMP11,CEACAMP4,PSG5,PSG4,CEACAMP10,PSG9
 
engchuan_15_ASD_discovery_controls-controlHABC_902757_902757
 
 
  Unknown
 
 
  ZNF227,ZNF233,ZNF226,ZNF235
 
girirajan_13b_ASD_discovery_controls-12110113024
 
 
  Unknown
 
 
  RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP1,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,LIPE-AS1,PSG3
 
girirajan_13b_ASD_discovery_controls-20209111301
 
 
  Unknown
 
 
  CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
girirajan_13b_ASD_discovery_controls-24907108358
 
 
  Unknown
 
 
  CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,CEACAMP4,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
girirajan_13b_ASD_discovery_controls-27309111520
 
 
  Unknown
 
 
  CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
girirajan_13b_ASD_discovery_controls-30705103901
 
 
  Unknown
 
 
  CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,PSG3
 
girirajan_13b_ASD_discovery_controls-3208108937
 
 
  Unknown
 
 
  PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,CEACAMP4,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
 
girirajan_13b_ASD_discovery_controls-33006106538
 
 
  Unknown
 
 
  CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG9
 
girirajan_13b_ASD_discovery_controls-40706106823
 
 
  Unknown
 
 
  CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
girirajan_13b_ASD_discovery_controls-45706106971
 
 
  Unknown
 
 
  CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
girirajan_13b_ASD_discovery_controls-46506107005
 
 
  Unknown
 
 
  RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG3
 
girirajan_13b_ASD_discovery_controls-9905103520
 
 
  Unknown
 
 
  RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
kanduri_15_ASD_discovery_controls-control_split286
 
 
  Unknown
 
 
  PSG5
 
krumm_13_ASD_discovery_controls-control12394.s1
 
 
  Paternal
  Simplex
 
  TEX101
 
krumm_13_ASD_discovery_controls-control13509.s1
 
 
  Maternal
  Simplex
 
  TEX101
 
krumm_15_ASD_discovery_controls-control11208.s1
  Illumina 1M
 
  Maternal
 
 
  TEX101
 
krumm_15_ASD_discovery_controls-control13319.s1
  1M-Duov3
 
  Maternal
 
 
  TEX101
 
krumm_15_ASD_discovery_controls-control13509.s1
  1M-Duov3
 
  Maternal
 
 
  TEX101
 
krumm_15_ASD_discovery_controls-control13537.s1
  1M-Duov3
 
  Maternal
 
 
  TEX101
 
levy_11_ASD_discovery_controls-11208.s1
 
 
  Maternal
  Simplex
  NA
  TEX101
 
levy_11_ASD_discovery_controls-12366.s1
 
 
  Paternal
  Simplex
  NA
  CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,PSG3,PSG9
 
sanders_11_ASD_discovery_controls-11208.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TEX101
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PLAUR
 
sanders_11_ASD_discovery_controls-12106.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RN7SL368P,PLAUR
 
sanders_11_ASD_discovery_controls-12150.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RN7SL368P,PLAUR
 
sanders_11_ASD_discovery_controls-12229.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RN7SL368P,PLAUR
 
sanders_11_ASD_discovery_controls-12334.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CEACAMP1,LIPE-AS1
 
sanders_11_ASD_discovery_controls-12343.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RN7SL368P,PLAUR
 
sanders_11_ASD_discovery_controls-12832.s1
 
 
  Maternal
  Simplex (quad)
  NA
  XRCC1
 

No Animal Model Data Available
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