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8p12CNV Type: Deletion-Duplication


Largest CNV size: 190649 bp

Statistics Box:
Number of Reports: 14


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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion-Duplication
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication

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
 108726
 5
 1
 6
 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
 128572
 0
 1
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 81276
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 81276
 0
 22
 22
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 110467
 1
 2
 3
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 408240
 1
 2
 3
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 547000
 0
 1
 1
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 102434
 0
 1
 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
 
 
 32586
 1
 0
 1
 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
 66649
 7
 0
 7
 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
 190649
 35
 3
 38
 schmitz-abe_20_ASD_discovery_cases
 ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
 255
 Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
 N/A
 N/A
 43001
 2
 0
 2
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 64406
 5
 0
 5
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 63730
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 190649
 1
 1
 2
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 42014
 0
 15
 15
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 26278
 1
 1
 2
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 39879
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 66649
 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.
 
 190649
 22
 2
 24
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 64406
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 63730
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 schmitz-abe_20_ASD_discovery_cases
  Middle Eastern
 Array SNP
  Affymetrix 6.0, Affymetrix 500K
 
 
 qPCR
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 Long-range PCR, qPCR
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13a_ASD_discovery_controls1
  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_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  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
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_cases-case14181_2940
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 34946422
 34979007
  32586
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14243_3670
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 34946422
 34979007
  32586
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1966_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38199812
 38308538
  108727
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4045_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 34946422
 34979007
  32586
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5301_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33640133
 33672581
  32449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5391_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 34946422
 34979007
  32586
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU1631301
 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
 38181361
 38309933
  128573
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case11722.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11722. SRS score of 81.
 Full-scale IQ (FSIQ) score of 97.
 30101897
 30183173
  81277
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11164.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11468.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11565.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11622.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30082951
  19102
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11660.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11722.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30101897
 30183173
  81277
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11753.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11782.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12026.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12083.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12271.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30082951
  19102
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12304.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30082951
  19102
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12550.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12587.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12637.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12905.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12925.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12933.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13060.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13196.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13222.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30082951
  19102
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13545.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 30063850
 30070061
  6212
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11716.p1
 NA
 M
 ASD
 NA
 NA
 38227657
 38263575
  35919
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11722.p1
 NA
 M
 ASD
 NA
 NA
 30084041
 30194507
  110467
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11722.p1
 NA
 M
 ASD
 NA
 NA
 37945095
 38014531
  69437
 GRCh38
 Duplication
 No
  mosca_16_DCD_discovery_cases-case107403
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 34006043
 34204158
  198116
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case114303
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis DCD; paternal diagnosis reading disorder; sibling diagnosis DCD (sibling DNA not available).
 
 29894300
 30302539
  408240
 GRCh38
 Duplication
 Yes
  mosca_16_DCD_discovery_cases-case114303
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis DCD; paternal diagnosis reading disorder; sibling diagnosis DCD (sibling DNA not available).
 
 33134880
 33185292
  50413
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam11112Proband10799
 N/A
 F
 ASD
 Additional clinical profile info N/A
 ID
 31119930
 31666456
  546527
 GRCh38
 Duplication
 No
  o'roak_12_ASD_discovery_cases-case11722.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo APAF1 missense mutation. No additional clinical info available.
 High IQ. Non verbal IQ, 99
 30090891
 30193325
  102435
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5391_3
 NA
 M
 ASD
 NA
 NA
 34946422
 34979007
  32586
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case100555L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 38337229
 38352272
  15044
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case105533L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 38341887
 38352272
  10386
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case111520L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 35801429
 35839071
  37643
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case131240
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 32113608
 32180256
  66649
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case139366L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 34923120
 34955623
  32504
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47556
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 33622580
 33648373
  25794
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case88032
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 34280401
 34294527
  14127
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11343.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
 38366179
 38376875
  10697
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11518.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11544.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
 30223384
 30352758
  129375
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11598.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
 35733419
 35755542
  22124
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11716.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20
 38226632
 38263465
  36834
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11718.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
 38366179
 38376875
  10697
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11722.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
 37952091
 37990632
  38542
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11792.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
 32845057
 32847327
  2271
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11843.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
 32540604
 32543983
  3380
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11922.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
 30567025
 30567582
  558
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11948.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12031.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
 33646923
 33672581
  25659
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12031.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12073.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12239.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
 34979007
 34996980
  17974
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12264.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
 38366179
 38376875
  10697
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12281.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 99; verbal IQ, 117
 36387488
 36578537
  191050
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12341.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12395.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12493.p1
 15.3
 F
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
 32842825
 32847327
  4503
 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
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12540.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12610.p1
 5.4
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12676.p1
 11.5
 M
 ASD
 NA
 Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12691.p1
 10.9
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12796.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12852.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 83
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12865.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12924.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
 33646923
 33672581
  25659
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12939.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12961.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
 32845057
 32847327
  2271
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12962.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
 33321304
 33334123
  12820
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13001.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
 32842825
 32847327
  4503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13096.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 111; verbal IQ, 99
 37963968
 37970137
  6170
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 37781753
 37788706
  6954
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13233.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
 36277897
 36304472
  26576
 GRCh38
 Deletion
 No
  schmitz-abe_20_ASD_discovery_cases-caseAU-19401
 N/A
 F
 ASD
 Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
 
 34942540
 34985540
  43001
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case1-0455-003
 N/A
 M
 ASD
 N/A
 N/A
 32134529
 32198934
  64406
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case3-0044-000
 N/A
 M
 ASD
 N/A
 N/A
 34946422
 34979007
  32586
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case3-0300-000
 N/A
 F
 ASD
 N/A
 N/A
 34948089
 34980794
  32706
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case8-14181-2940
 N/A
 M
 ASD
 N/A
 N/A
 34946422
 34979007
  32586
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case8-14243-3670
 N/A
 M
 ASD
 N/A
 N/A
 34946422
 34979007
  32586
 GRCh38
 Deletion
 Yes
  yin_16_ASD_discovery_cases-case315
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 35480132
 35543861
  63730
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlHABC_902470_902470
  N/A
  N/A
  Control
  No previous psychiatric history
 
  36387488
  36578537
  191050
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902546_902546
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35596136
  35647445
  51310
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11721.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11768.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12083.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12313.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12367.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12642.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30082951
  19102
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12669.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30101987
  38138
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12715.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12905.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12942.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13012.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13094.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13196.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13443.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30070061
  6212
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13502.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  30063850
  30105864
  42015
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C27162
 
 
  Control
 
 
  32178865
  32205142
  26278
  Unknown
  Duplication
 
  nord_11_ASD_discovery_controls-04C27412
 
 
  Control
 
 
  34956026
  34973757
  17732
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control05C42568A
  N/A
  F
  Control
  NIMH Control (NIMH ID 58494)
 
  30065986
  30105864
  39879
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11091.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  37985682
  38008580
  22899
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  36277897
  36312173
  34277
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11.9
  M
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11544.s1
  17.7
  M
  Control (matched sibling)
  NA
  NA
  30223384
  30351266
  127883
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11718.s1
  23.6
  F
  Control (matched sibling)
  NA
  NA
  38366179
  38376875
  10697
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11916.s1
  6.9
  F
  Control (matched sibling)
  NA
  NA
  32845057
  32847327
  2271
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12037.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  32845057
  32847327
  2271
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12381.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12385.s1
  10.7
  F
  Control (matched sibling)
  NA
  NA
  32845057
  32847327
  2271
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12561.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12579.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  34979007
  34998853
  19847
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12610.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  32845057
  32847327
  2271
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12618.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  32842825
  32856746
  13922
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12676.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  32845057
  32847327
  2271
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12685.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12691.s1
  23.8
  M
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12784.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  36387488
  36578537
  191050
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12865.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12962.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  33321304
  33334123
  12820
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13051.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13082.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13083.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  32842825
  32847327
  4503
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  36280516
  36292011
  11496
  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-case14181_2940
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14243_3670
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case1966_301
 
 
 Unknown
 
 
 PLPP5,BAG4,DDHD2,NSD3
 
 engchuan_15_ASD_discovery_cases-case4045_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5301_3
 
 
 Unknown
 
 
 BUD31P1
 
 engchuan_15_ASD_discovery_cases-case5391_3
 
 
 Unknown
 
 
 
 
 girirajan_13a_ASD_discovery_cases-AU1631301
 aCGH (NimbleGen 135K array)
 
 Maternal
 Multiplex
 Unknown
 PLPP5,BAG4,DDHD2,NSD3
 
 krumm_13_ASD_discovery_cases-case11722.p1
 
 
 Paternal
 Simplex
 Segregated
 RPS15AP24,MBOAT4,DCTN6,LEPROTL1
 
 krumm_15_ASD_discovery_cases-case11164.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SARAF
 
 krumm_15_ASD_discovery_cases-case11468.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case11565.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case11622.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case11660.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case11722.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 RPS15AP24,MBOAT4,DCTN6,LEPROTL1
 
 krumm_15_ASD_discovery_cases-case11753.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case11782.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case12026.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case12083.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SARAF
 
 krumm_15_ASD_discovery_cases-case12271.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case12304.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case12550.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case12587.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case12637.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case12905.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SARAF
 
 krumm_15_ASD_discovery_cases-case12925.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case12933.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case13060.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case13196.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SARAF
 
 krumm_15_ASD_discovery_cases-case13222.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 krumm_15_ASD_discovery_cases-case13545.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SARAF
 
 levy_11_ASD_discovery_cases-11716.p1
 
 
 Paternal
 Simplex
 Segregated
 PLPP5,DDHD2
 
 levy_11_ASD_discovery_cases-11722.p1
 
 
 Paternal
 Simplex
 Segregated
 RPS15AP24,MBOAT4,DCTN6,LEPROTL1
 
 levy_11_ASD_discovery_cases-11722.p1
 
 
 Paternal
 Simplex
 Segregated
 ADRB3,RPL12P48
 
 mosca_16_DCD_discovery_cases-case107403
 
 
 Unknown
 Unknown
 Unknown
 
 
 mosca_16_DCD_discovery_cases-case114303
 qPCR
 
 Paternal
 Multi-generational
 Unknown
 MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,LINC02209,SARAF,DCTN6,LEPROTL1
 
 mosca_16_DCD_discovery_cases-case114303
 
 
 Unknown
 Multi-generational
 Unknown
 
 
 nava_13_ASD_discovery_cases-Fam11112Proband10799
 
 
 Paternal
 Simplex
 Unknown
 SUMO2P16,KCTD9P6,RNA5SP261,WRN,NRG1
 
 o'roak_12_ASD_discovery_cases-case11722.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 RPS15AP24,MBOAT4,DCTN6,LEPROTL1
 
 pinto_10_ASD_discovery_cases-case5391_3
 Agilent1M
 
 maternal
 NA
 NA
 
 
 prasad_12_ASD_discovery_cases-case100555L
 
 
 Unknown
 Unknown
 Unknown
 WHSC1L1
 
 prasad_12_ASD_discovery_cases-case105533L
 
 
 Unknown
 Unknown
 Unknown
 WHSC1L1
 
 prasad_12_ASD_discovery_cases-case111520L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case131240
 
 
 Unknown
 Unknown
 Unknown
 NRG1
 
 prasad_12_ASD_discovery_cases-case139366L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case47556
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case88032
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11343.p1
 
 
 Paternal
 Simplex (trio)
 NA
 NSD3
 
 sanders_11_ASD_discovery_cases-11518.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11544.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HSPA8P11,PPIAP84,TUBBP1
 
 sanders_11_ASD_discovery_cases-11598.p1
 
 
 Paternal
 Simplex (trio)
 NA
 UNC5D
 
 sanders_11_ASD_discovery_cases-11716.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PLPP5,DDHD2
 
 sanders_11_ASD_discovery_cases-11718.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NSD3
 
 sanders_11_ASD_discovery_cases-11722.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 ADRB3,RPL12P48
 
 sanders_11_ASD_discovery_cases-11792.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11843.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NRG1
 
 sanders_11_ASD_discovery_cases-11922.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBPMS
 
 sanders_11_ASD_discovery_cases-11948.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12031.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12031.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12073.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12239.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12264.p1
 
 
 Maternal
 Simplex (trio)
 NA
 NSD3
 
 sanders_11_ASD_discovery_cases-12281.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12341.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12395.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12493.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12540.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12610.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12676.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12691.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12796.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12852.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12865.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12924.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12939.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12961.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12962.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13001.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13096.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 ADRB3
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ADGRA2
 
 sanders_11_ASD_discovery_cases-13233.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MTCYBP19,MTND6P19,MTND5P41
 
 schmitz-abe_20_ASD_discovery_cases-caseAU-19401
 qPCR
 
 Both parents
 Simplex
 Segregated
 
 
 walker_13_ASD_discovery_cases-case1-0455-003
 
 
 Unknown
 Multiplex
 Unknown
 RNA5SP262,NRG1-IT1,NRG1
 
 walker_13_ASD_discovery_cases-case3-0044-000
 Long-range PCR or qPCR
 
 Maternal
 Simplex
 Segregated
 
 
 walker_13_ASD_discovery_cases-case3-0300-000
 Long-range PCR or qPCR
 
 Paternal
 Simplex
 Segregated
 
 
 walker_13_ASD_discovery_cases-case8-14181-2940
 Long-range PCR or qPCR
 
 Paternal
 Simplex
 Segregated
 
 
 walker_13_ASD_discovery_cases-case8-14243-3670
 Long-range PCR or qPCR
 
 Maternal
 Simplex
 Segregated
 
 
 yin_16_ASD_discovery_cases-case315
 
 
 Unknown
 Unknown
 Unknown
 LSM12P1,UNC5D
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902470_902470
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902546_902546
 
 
  Unknown
 
 
  UNC5D
 
krumm_15_ASD_discovery_controls-control11721.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control11768.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control12083.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control12313.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control12367.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control12642.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control12669.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SARAF,LEPROTL1
 
krumm_15_ASD_discovery_controls-control12715.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control12905.s1
  1M-Duov3
 
  Paternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control12942.s1
  1M-Duov3
 
  Paternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control13012.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control13094.s1
  1M-Duov3
 
  Maternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control13196.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control13443.s1
  1M-Duov3
 
  Maternal
 
 
  SARAF
 
krumm_15_ASD_discovery_controls-control13502.s1
  1M-Duov3
 
  Maternal
 
 
  SARAF,LEPROTL1
 
nord_11_ASD_discovery_controls-04C27162
 
 
 
 
 
  NRG1
 
nord_11_ASD_discovery_controls-04C27412
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control05C42568A
 
 
  Unknown
 
 
  SARAF,LEPROTL1
 
sanders_11_ASD_discovery_controls-11091.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MTCYBP19,MTND6P19,MTND5P41,RNU6-533P
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11544.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HSPA8P11,PPIAP84
 
sanders_11_ASD_discovery_controls-11718.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NSD3
 
sanders_11_ASD_discovery_controls-11916.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12037.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12381.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12385.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12561.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12579.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12610.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12618.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12676.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12685.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12691.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12784.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12865.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12962.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13051.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13082.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13083.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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