geno logo
     HELP     Sign In

Quick Links

TOOLS

8q21.2CNV Type: Deletion-Duplication


Largest CNV size: 160717 bp

Statistics Box:
Number of Reports: 12


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
De novo rates and selection of large copy number variation.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
NA
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
 160716
 4
 2
 6
 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
 
 
 122543
 1
 0
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 3368301
 1
 0
 1
 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
 26295
 1
 0
 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
 223786
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 41078
 0
 1
 1
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 20548
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 75713
 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
 
 
 160717
 1
 0
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 36214
 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
 192944
 1
 1
 2
 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
 57384
 56
 3
 59

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
 37731
 2
 0
 2
 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
 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
 41880
 0
 1
 1
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 20548
 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.
 
 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)
 192944
 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.
 
 56224
 41
 2
 43

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
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 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)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_cases-case1347_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 85481271
 85641987
  160717
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14354_4680
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 85828706
 85905599
  76894
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3072_8
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 84317580
 84355311
  37732
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3454_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 85834216
 85865384
  31169
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3468_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 85834216
 85865384
  31169
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6266_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 85842936
 85924557
  81622
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU0920301
 
 
 Autism
 
 
 86613061
 86735603
  122543
 Unknown
 Deletion
 No
  itsara_10_ASD_discovery_cases-HI2828
 NA
 NA
 Autism
 NA
 NA
 83945532
 87307279
  3361748
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case1986
 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.
 
 85239703
 85265997
  26295
 Unknown
 Deletion
 No
  krumm_13_ASD_discovery_cases-case13412.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13412. SRS score of 90.
 Full-scale IQ (FSIQ) score of 33.
 85439711
 85663497
  223787
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case13412.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 85439711
 85480789
  41079
 GRCh38
 Duplication
 Yes
  larson_17_ASD_discovery_cases-case13
  NA NA
 N/A
 M
 ASD and psychosis
 Male, above average IQ, psychosis onset early 20s, diagnosis of affective psychosis NOS, FDR history of psychosis/mood disorder. CNV not reported in DGV.
 Above average IQ
 84480748
 84501296
  20549
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-256-1
 
 
 ASD
 
 
 85289125
 85364837
  75713
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1347_301
 NA
 M
 ASD
 NA
 NA
 85481271
 85641987
  160717
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case3468_3
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 85829000
 85865384
  36385
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case61182L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 86654142
 86730641
  76500
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case67170L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 86737690
 86930633
  192944
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11002.p1
 7.7
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
 84337813
 84355311
  17499
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11060.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11066.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ 86
 84337813
 84355311
  17499
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11099.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11128.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11132.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11262.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11312.p1
 10
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11316.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 45; verbal IQ, 21
 84348922
 84355311
  6390
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11349.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11355.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11421.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11446.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11452.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11468.p1
 10.7
 M
 Aspergers
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11472.p1
 13.7
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11475.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11494.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11552.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
 84348922
 84355311
  6390
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 84348922
 84355311
  6390
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11568.p1
 13.5
 F
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
 84348922
 84360184
  11263
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11571.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11597.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
 83985380
 84041604
  56225
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 84348922
 84355311
  6390
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11879.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 89; verbal IQ, 69
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11901.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 27
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12001.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 84345305
 84360184
  14880
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12003.p1
 4.3
 M
 ASD
 NA
 Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12061.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12074.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12149.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12161.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
 84345305
 84355311
  10007
 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
 84348922
 84355311
  6390
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12211.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12243.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12255.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12349.p1
 4.9
 M
 ASD
 NA
 Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12350.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12354.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12363.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12465.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
 84345305
 84355311
  10007
 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
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12617.p1
 10.8
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
 85304290
 85321245
  16956
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12787.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
 84345305
 84355311
  10007
 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
 83913821
 83926694
  12874
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13012.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 60; verbal IQ, 21
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13019.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
 84348922
 84355311
  6390
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13048.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13053.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13085.p1
 14.8
 M
 ASD
 NA
 Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13093.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13166.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
 84387701
 84418689
  30989
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 83827550
 83884934
  57385
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13199.p1
 15.2
 F
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 97
 84345305
 84355311
  10007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 84345305
 84355311
  10007
 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-controlB951657_1007843871
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84317580
  84355311
  37732
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900107_900107
  N/A
  N/A
  Control
  No previous psychiatric history
 
  85604856
  85641987
  37132
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control14315.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  85438909
  85480789
  41881
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11002.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11017.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  84696897
  84748202
  51306
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11043.s1
  11.5
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11091.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11099.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11132.s1
  10.7
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11159.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11247.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  84348922
  84355311
  6390
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11298.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  84348922
  84355311
  6390
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11355.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11437.s1
  18.4
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11452.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11472.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11474.s1
  19
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11475.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11485.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11494.s1
  19.3
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11541.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8.9
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  84348922
  84355311
  6390
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11597.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  83985380
  84041604
  56225
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  84348922
  84355311
  6390
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11857.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11879.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12001.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12061.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12106.s1
  10.9
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  84348922
  84359094
  10173
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12211.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12212.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12345.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12363.s1
  21.9
  M
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12372.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12598.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12610.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12701.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  84348922
  84355311
  6390
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12796.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12832.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  84348922
  84355311
  6390
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12956.s1
  7.4
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12997.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13012.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13327.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  84345305
  84355311
  10007
  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-case1347_301
 
 
 Unknown
 
 
 CA2
 
 engchuan_15_ASD_discovery_cases-case14354_4680
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3072_8
 
 
 Unknown
 
 
 RALYL
 
 engchuan_15_ASD_discovery_cases-case3454_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3468_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6266_3
 
 
 Unknown
 
 
 
 
 gai_11_ASD_replication_cases-AU0920301
 
 
 Inherited
 
 
 0 genes
 
 itsara_10_ASD_discovery_cases-HI2828
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 TPM3P3,RNU6-1040P,ACTBP6,C8orf59,REXO1L8P,REXO1L1P,REXO1L12P,REXO1L11P,REXO1L10P,REXO1L9P,REXO1L2P,REXO1L5P,REXO1L6P,NTAN1P2,SLC2A3P4,MIOXP1,GOLGA2P1,UBE2Q2P10,LRRCC1,CA13,CA3,CA2,REXO1L3P,REXO1L4P,PSKH2,CPNE3,RALYL,E2F5,CA1,CA3-AS1,ATP6V0D2,SLC7A13,WWP1,RMDN1,CNGB3,CNBD1
 
 kanduri_15_ASD_discovery_cases-case1986
 
 
 Paternal
 Unknown
 Unknown
 RALYL (splicing location)
 
 krumm_13_ASD_discovery_cases-case13412.p1
 
 
 Paternal
 Simplex
 Segregated
 REXO1L8P,REXO1L1P,CA3,CA2,REXO1L3P,CA3-AS1
 
 krumm_15_ASD_discovery_cases-case13412.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 CA3,CA2,CA3-AS1
 
 larson_17_ASD_discovery_cases-case13
 
 
 Unknown
 
 Unknown
 RALYL
 
 nord_11_ASD_discovery_cases-256-1
 
 
 Maternal
 
 
 RALYL
 
 pinto_10_ASD_discovery_cases-case1347_301
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 CA2
 
 pinto_14_ASD_discovery_cases2-case3468_3
 qPCR
 
 Maternal
 Simplex
 (no siblings)
 
 
 prasad_12_ASD_discovery_cases-case61182L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case67170L
 
 
 Unknown
 Unknown
 Unknown
 REXO1L2P,REXO1L1
 
 sanders_11_ASD_discovery_cases-11002.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11060.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 RALYL
 
 sanders_11_ASD_discovery_cases-11066.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 RALYL
 
 sanders_11_ASD_discovery_cases-11099.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11128.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-11132.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11262.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11312.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11316.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11349.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11355.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11421.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11446.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11452.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11468.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-11472.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11475.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11494.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11552.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11568.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11571.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11597.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Both parents
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-11879.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-11901.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12001.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12003.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-12061.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12074.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-12149.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-12161.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12211.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12243.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12255.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12349.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-12350.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-12354.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-12363.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12465.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-12610.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12617.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12787.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-12796.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13012.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-13019.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-13048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-13053.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-13085.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-13093.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-13166.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13199.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RALYL
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RALYL
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB951657_1007843871
 
 
  Unknown
 
 
  RALYL
 
engchuan_15_ASD_discovery_controls-controlHABC_900107_900107
 
 
  Unknown
 
 
 
 
krumm_15_ASD_discovery_controls-control14315.s1
  Omni2.5-4v1
 
  Paternal
 
 
  CA3,CA2,CA3-AS1
 
sanders_11_ASD_discovery_controls-11002.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11017.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11043.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11091.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11099.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11132.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11159.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11247.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11298.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11355.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11437.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11452.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11472.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11474.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11475.s1
 
 
  Both parents
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11485.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11494.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11541.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11597.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11857.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-11879.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12001.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12061.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12106.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12211.s1
 
 
  Both parents
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12212.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12345.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12363.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12372.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12598.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12610.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12701.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12796.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12832.s1
 
 
  Both parents
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12956.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-12997.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-13012.s1
 
 
  Both parents
  Simplex (quad)
  NA
  RALYL
 
sanders_11_ASD_discovery_controls-13327.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RALYL
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.