HELP     Sign In

13q31.1CNV Type: Deletion-Duplication


Largest CNV size: 557226 bp

Statistics Box:
Number of Reports: 14



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 232200
 2
 0
 2
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 55488
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 47032
 1
 0
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 59905
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 ± 1.5 (mean verbal IQ, 81.9 ± 1.7; mean non-verbal IQ, 88.4 ± 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 557226
 81
 13
 94
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 2836543
 2
 0
 2
 salyakina_11_ASD_discovery_cases
 ASD patients from extended ASD families (defined as families with at least two affected cousins)
 97
 ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
 Range, 3-21 yrs.
 
 5237
 3
 0
 3
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 672264
 0
 1
 1
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 36000
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 195156
 5
 2
 7
 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
 276087
 19
 2
 21
 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
 2874
 1
 0
 1
 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
 45194
 0
 1
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 500000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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.
 
 335727
 2
 1
 3
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 494206
 63
 16
 79
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 salyakina_11_ASD_discovery_controls
 Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
 838
 Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
 
 
 5237
 0
 0
 0
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 672264
 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)
 195156
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 194827
 23
 4
 27
 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
 226757
 6
 0
 6
 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
 45194
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affy 500K
 BRLMM
 dChip
 
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP & iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), and/or array SNP (Affy 500K)
 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
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp or Syt microarray
 HMM
 CNAG v2
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 salyakina_11_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
 PennCNV
 BeadStudio v3
 qPCR
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
 Affymetrix Genotyping Console v4.1
 None
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  salyakina_11_ASD_discovery_controls
  727 Caucasian, 111 African-American
 
 
 
 
 
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  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
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
  Affymetrix Genotyping Console v4.1
  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
  morrow_08_ASD_discovery_cases-case11401
 NA
 
 ASD
 NA
 NA
 82122000
 82354000
  232200
 
 Deletion
 No
  morrow_08_ASD_discovery_cases-case5201
 NA
 
 ASD
 NA
 NA
 81946000
 82043000
  97000
 
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5107_3
 NA
 M
 ASD
 NA
 NA
 83000441
 83055928
  55488
 
 Deletion
 Yes
  nord_11_ASD_discovery_cases-256-1
 
 
 ASD
 
 
 83476851
 83523882
  47032
 
 Deletion
 No
  davis_09_ASD_discovery_cases-AU1376302
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: iris coloboma
 
 82986031
 83078785
  59905
 
 Duplication
 No
  sanders_11_ASD_discovery_cases-11027.p1
 9
 M
 ASD
 NA
 Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
 83000441
 83063672
  63231
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11030.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
 82090231
 82096952
  6721
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11037.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11092.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
 84181912
 84187773
  5861
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11168.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
 79319341
 79352537
  33196
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11181.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 101
 81142303
 81515763
  373460
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11206.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
 83000441
 83063672
  63231
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11274.p1
 11
 F
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11297.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
 82943914
 82965062
  21148
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11300.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
 82684518
 82689616
  5098
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11301.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11323.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
 83000441
 83063628
  63187
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11333.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11347.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
 84754135
 84766324
  12189
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11352.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11396.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
 82844883
 82856078
  11195
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11440.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
 80852877
 80885095
  32218
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11466.p1
 9
 M
 Aspergers
 NA
 Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
 85837196
 86040858
  203662
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11518.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
 84699543
 84700708
  1165
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11520.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57
 82198270
 82229839
  31569
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11557.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 86073472
 86261101
  187629
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11578.p1
 5
 M
 ASD
 NA
 Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
 83543510
 83564437
  20927
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11609.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 82844883
 82851694
  6811
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11665.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
 79318040
 79346535
  28495
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11677.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 83000441
 83063672
  63231
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11709.p1
 6
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59
 83004473
 83055928
  51455
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11724.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
 83060797
 83080600
  19803
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11765.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
 83000441
 83063628
  63187
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11782.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
 81035524
 81592750
  557226
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11806.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11809.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11810.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
 83000441
 83060797
  60356
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11835.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11893.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
 82844883
 82851694
  6811
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11911.p1
 9
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
 84699543
 84700708
  1165
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 80038567
 80044397
  5830
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11995.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12001.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 83000441
 83063628
  63187
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12026.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
 83000441
 83063672
  63231
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12033.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12093.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
 82089239
 82096952
  7713
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12096.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
 81228082
 81254514
  26432
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12103.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 84740751
 84747252
  6501
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12210.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12231.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43
 83000441
 83063628
  63187
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12239.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12297.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12310.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12310.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12320.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
 82844883
 82851694
  6811
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12346.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 81276977
 81278283
  1306
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12390.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 97; verbal IQ, 75
 82844883
 82851694
  6811
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12392.p1
 7
 M
 ASD
 NA
 Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12407.p1
 9
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12420.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12420.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
 82844883
 82851694
  6811
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12430.p1
 9
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
 84699543
 84700708
  1165
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12438.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 80627385
 80696423
  69038
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12462.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12483.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12497.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
 83000441
 83074880
  74439
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12505.p1
 5
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
 82844883
 82851694
  6811
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12536.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 86104430
 86209475
  105045
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 82996585
 83069357
  72772
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 83733220
 83765905
  32685
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12647.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12669.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 91; verbal IQ, 120
 83000441
 83063628
  63187
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12742.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12749.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 83000441
 83063672
  63231
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12832.p1
 6
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12894.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12948.p1
 17
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
 83120737
 83133677
  12940
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13001.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13005.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
 82685476
 82689616
  4140
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13019.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
 79983065
 80044009
  60944
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13033.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
 83000441
 83063672
  63231
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13048.p1
 12
 F
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13048.p1
 12
 F
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 84756194
 84766324
  10130
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13174.p1
 10
 M
 Aspergers
 NA
 Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
 83000441
 83063628
  63187
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13216.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
 85497775
 85563006
  65231
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13226.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
 83000441
 83075211
  74770
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13244.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63
 82686707
 82689616
  2909
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13301.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
 84699543
 84702088
  2545
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13322.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
 84699543
 84700708
  1165
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13324.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
 81228082
 81263766
  35684
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004365
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 79473722
 82310265
  2836543
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 81696137
 82776105
  1079968
 NCBI36
 Deletion
 Yes
  salyakina_11_ASD_discovery_cases-17142_001
 
 M
 PDD-NOS
 Overall low muscle tone, delayed language development
 
 77912491
 77917728
  5237
 Build NCBI36/hg18
 Deletion
 Yes
  salyakina_11_ASD_discovery_cases-17142_101
 
 M
 Autism
 
 
 77912491
 77917728
  5237
 Build NCBI36/hg18
 Deletion
 Yes
  salyakina_11_ASD_discovery_cases-17142_106
 
 M
 PDD-NOS
 ADHD symptoms, depression, possible schizophrenia, seizures. Regression of social engagement at 96 months.
 
 77912491
 77917728
  5237
 Build NCBI36/hg18
 Deletion
 Yes
  girirajan_11_ASD_discovery_cases-Si144
 10
 M
 Autism
 ADOS score: 10. Vineland composite score: 71.
 No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 82; Non-verbal IQ, 96.
 83545175
 84217439
  672264
 UCSC Build36/hg18
 Duplication
 No
  lesca_12_EP_discovery_cases-caseDZ77
 NA
 M
 Epilepsy + autistic features
 Phenotype: i-CSWSS. Seizure Characteristics: Awake. Autistic features: Yes. ADHD features: Yes. Other features: None.
 Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 65, performance IQ 78 (at 4.5 years of age).
 80422093
 80458137
  36000
 UCSC Genome Browser build37
 Deletion
 No
  prasad_12_ASD_discovery_cases-case77203
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 81437997
 81482530
  44534
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case77203
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 81596666
 81639138
  42473
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85750
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 82181914
 82228103
  46190
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case139324
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 79283299
 79319235
  35937
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case146446L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 84187976
 84221529
  33554
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case67953L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 80807827
 81002982
  195156
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case77405L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 85431338
 85440037
  8700
 
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13014_193
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13053_633
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 80088879
 80128930
  40051
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14109_1970
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 86185976
 86223905
  37929
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14143_2410
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83019646
 83122205
  102559
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14179_2900
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 80900000
 81059900
  159900
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14179_2900
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14203_3290
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 82996585
 83055928
  59343
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16029_1571001001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 78603924
 78660376
  56452
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20028_1134001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20045_1261001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 80315897
 80475276
  159379
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20048_1265001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 81090400
 81228082
  137682
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20160_1432001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 84747040
 85023127
  276087
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3310_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3615_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 86382515
 86461466
  78951
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4336_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83000441
 83060797
  60356
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4390_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 85506597
 85563006
  56409
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5107_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5257_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6002_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83534671
 83621378
  86707
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6030_6
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8497_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83000441
 83055928
  55487
 hg18
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case3076
 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.
 
 83788742
 83791615
  2874
 N/A
 Deletion
 No
  yin_16_ASD_discovery_cases-case450
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 85980783
 86025976
  45194
 GRCh37/hg19
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU3127302
 N/A
 M
 ASD
 
 
 80631000
 81128000
  500000
 GRCh37/hg19
 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
  nord_11_ASD_discovery_controls-04C27071
 
 
  Control
 
 
  80609008
  80944734
  335727
 
  Deletion
 
  nord_11_ASD_discovery_controls-04C28227
 
 
  Control
 
 
  82727560
  82793057
  65498
 
  Duplication
 
  sanders_11_ASD_discovery_controls-11168.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  79324746
  79346535
  21789
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11181.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  81142303
  81515763
  373460
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11206.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  83000441
  83063672
  63231
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11274.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11296.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11323.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  83000441
  83063672
  63231
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11339.s1
  11
  M
  Control (matched sibling)
  NA
  NA
  82770886
  83265092
  494206
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11345.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  85466585
  85532243
  65658
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11347.s1
  17
  M
  Control (matched sibling)
  NA
  NA
  84756194
  84766324
  10130
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11400.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  80315897
  80491749
  175852
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11413.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  79924093
  79937828
  13735
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  80852877
  80888174
  35297
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11453.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  82844883
  82851694
  6811
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11466.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  85837196
  86048657
  211461
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11474.s1
  19
  M
  Control (matched sibling)
  NA
  NA
  83024221
  83198410
  174189
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11502.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11520.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  82198270
  82235439
  37169
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11520.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  83374544
  83378741
  4197
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11550.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  86033803
  86136841
  103038
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11557.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11563.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  81228082
  81254514
  26432
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  86323611
  86351343
  27732
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  86073472
  86261101
  187629
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11578.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  83543510
  83564437
  20927
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11627.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11666.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  82085067
  82096952
  11885
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11700.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  83060797
  83075211
  14414
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  82995873
  83074880
  79007
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11798.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11827.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  84699543
  84700708
  1165
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11835.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11855.s1
  15
  F
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11857.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11879.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  83000441
  83060797
  60356
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11894.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  84699543
  84702088
  2545
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11954.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  84682965
  84699594
  16629
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11990.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  83265092
  83289837
  24745
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12037.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  83000441
  83063628
  63187
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12096.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  81228082
  81254514
  26432
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12113.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  84699543
  84702088
  2545
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12304.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12320.s1
  23
  F
  Control (matched sibling)
  NA
  NA
  82844883
  82851694
  6811
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12331.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  82345231
  82349879
  4648
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12337.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  80727787
  80868843
  141056
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12337.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  83543510
  83799725
  256215
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12339.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12367.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  84699543
  84702088
  2545
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12409.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  79438904
  79479594
  40690
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12420.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  82844883
  82856078
  11195
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12441.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12497.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  82988383
  83063628
  75245
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12515.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  82089239
  82096952
  7713
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  83000441
  83069357
  68916
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  86102860
  86209475
  106615
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12618.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  85136351
  85147651
  11300
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12647.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  84699543
  84700708
  1165
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12669.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  83000441
  83060797
  60356
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12671.s1
  17
  F
  Control (matched sibling)
  NA
  NA
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12691.s1
  23
  M
  Control (matched sibling)
  NA
  NA
  78103413
  78106415
  3002
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12708.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  84699543
  84700708
  1165
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  83000441
  83063628
  63187
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12780.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  82844883
  82851694
  6811
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12785.s1
  16
  F
  Control (matched sibling)
  NA
  NA
  82987208
  83069357
  82149
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12832.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12838.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12892.s1
  15
  F
  Control (matched sibling)
  NA
  NA
  81270269
  81290693
  20424
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12921.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  78593828
  78610680
  16852
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12989.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  83000441
  83063672
  63231
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13001.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  83543510
  83564437
  20927
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13048.s1
  15
  F
  Control (matched sibling)
  NA
  NA
  82686707
  82689616
  2909
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13048.s1
  15
  F
  Control (matched sibling)
  NA
  NA
  82180429
  82228166
  47737
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13057.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  84699543
  84700708
  1165
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13159.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  83649411
  83685937
  36526
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-13162.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  77912491
  77917728
  5237
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13174.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  83000441
  83063628
  63187
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13226.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  83000441
  83060797
  60356
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13322.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  84699543
  84700708
  1165
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13324.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  81228082
  81263766
  35684
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902824_902824
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902795_902795
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902596_902596
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902495_902495
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84699543
  84802577
  103034
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902492_902492
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
  N/A
  N/A
  Control
  No previous psychiatric history
 
  85503289
  85563006
  59717
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
  N/A
  N/A
  Control
  No previous psychiatric history
 
  80808042
  81002869
  194827
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
  N/A
  N/A
  Control
  No previous psychiatric history
 
  82474099
  82530005
  55906
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901015_901015
  N/A
  N/A
  Control
  No previous psychiatric history
 
  82996585
  83055928
  59343
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83164431
  83241691
  77260
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900537_900537
  N/A
  N/A
  Control
  No previous psychiatric history
 
  78295210
  78349257
  54047
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
  N/A
  N/A
  Control
  No previous psychiatric history
 
  78603924
  78660376
  56452
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
  N/A
  N/A
  Control
  No previous psychiatric history
 
  85606472
  85657834
  51362
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900182_900182
  N/A
  N/A
  Control
  No previous psychiatric history
 
  81321705
  81453221
  131516
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900160_900160
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB787931_1007853911
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83069357
  68916
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB774739_1007872529
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB543816_1007853746
  N/A
  N/A
  Control
  No previous psychiatric history
 
  80469372
  80571474
  102102
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB472351_1007842232
  N/A
  N/A
  Control
  No previous psychiatric history
 
  86002839
  86117597
  114758
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB369176_1007843525
  N/A
  N/A
  Control
  No previous psychiatric history
 
  82978441
  83055928
  77487
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB295710_1007841796
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83055928
  55487
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB246144_1007852649
  N/A
  N/A
  Control
  No previous psychiatric history
 
  85969056
  86017648
  48592
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB182205_0057061577
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83060797
  60356
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB133359_1007842669
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83000441
  83055928
  55487
  hg18
  Homozygous deletion
  No
  engchuan_15_ASD_discovery_controls-control110036015030_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  81210699
  81254514
  43815
  hg18
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1211
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  87463100
  87689856
  226757
  N/A
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1932
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  81919202
  82102166
  182965
  N/A
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split437
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  87283152
  87463100
  179949
  N/A
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split474
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  85013168
  85172949
  159782
  N/A
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split902
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  87463100
  87689856
  226757
  N/A
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split963
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  83788742
  83791615
  2874
  N/A
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 morrow_08_ASD_discovery_cases-case11401
 
 
 Paternal
 NA
 NA
 3' end of SLITRK1
 
 morrow_08_ASD_discovery_cases-case5201
 
 
 Maternal
 NA
 NA
 3' end of SLITRK1
 
 pinto_10_ASD_discovery_cases-case5107_3
 Agilent1M
 
 maternal
 NA
 NA
 0 genes
 
 nord_11_ASD_discovery_cases-256-1
 
 
 Maternal
 
 
 0 genes
 
 davis_09_ASD_discovery_cases-AU1376302
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11027.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11030.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11037.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11092.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11181.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11206.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11274.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11297.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11300.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11301.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11323.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11333.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11347.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11352.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11396.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11440.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11466.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11518.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11520.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11557.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11578.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11609.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11665.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11677.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Both parents
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11709.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11724.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11765.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11782.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11806.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11809.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11810.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11835.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11893.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11911.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11995.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12001.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12026.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12033.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12093.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12096.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12103.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12210.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12231.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12239.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12297.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12310.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12310.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12320.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12346.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12390.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12392.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12407.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12420.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12420.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12430.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12438.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12462.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12483.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12497.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12505.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12536.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12647.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12669.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12742.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12749.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12832.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12894.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12948.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-13001.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13005.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13019.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-13033.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-13048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13174.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13216.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13226.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13244.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-13301.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13322.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13324.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004365
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPRY2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 salyakina_11_ASD_discovery_cases-17142_001
 qPCR
 
 Paternal
 Multiplex
 Not segregated
 0 genes
 
 salyakina_11_ASD_discovery_cases-17142_101
 qPCR
 
 Paternal
 Multiplex
 Not segregated
 0 genes
 
 salyakina_11_ASD_discovery_cases-17142_106
 qPCR
 
 Maternal
 Simplex
 Unknown
 0 genes
 
 girirajan_11_ASD_discovery_cases-Si144
 
 
 Unknown
 Simplex
 
 0 genes
 
 lesca_12_EP_discovery_cases-caseDZ77
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case77203
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case77203
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case85750
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case139324
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case146446L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case67953L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case77405L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 engchuan_15_ASD_discovery_cases-case13014_193
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case13053_633
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14109_1970
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14143_2410
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14179_2900
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14179_2900
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14203_3290
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case16029_1571001001
 
 
 Unknown
 
 
 MIR548A2
 
 engchuan_15_ASD_discovery_cases-case20028_1134001
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case20045_1261001
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case20048_1265001
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case20160_1432001
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3310_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3615_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4336_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4390_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case5107_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case5257_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case6002_4
 
 
 Unknown
 
 
 MIR548F1
 
 engchuan_15_ASD_discovery_cases-case6030_6
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case8497_202
 
 
 Unknown
 
 
 0 genes
 
 kanduri_15_ASD_discovery_cases-case3076
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, SLITRK1(dist=659725)
 
 yin_16_ASD_discovery_cases-case450
 
 
 Unknown
 Unknown
 Unknown
 LINC00351
 
 leppa_16_ASD_discovery_cases-AU3127302
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected siblings)
 SPRY2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C27071
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28227
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11168.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11181.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11206.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11274.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11296.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11323.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11339.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11345.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11347.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11400.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11413.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11453.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11466.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11474.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11502.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11520.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11520.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11550.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11557.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11563.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11578.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11627.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11666.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11700.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11798.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11827.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11835.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11855.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11857.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11879.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11894.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11954.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11990.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12037.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12096.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12113.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12304.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12320.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12331.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12337.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12337.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12339.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12367.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12409.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12420.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12441.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12497.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12515.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12618.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12647.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12669.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12671.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12691.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNF219 intronic
 
sanders_11_ASD_discovery_controls-12708.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12780.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12785.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12832.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12838.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12892.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12921.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12989.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13001.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13048.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13048.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13057.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13159.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13162.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13174.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13226.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13322.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13324.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902824_902824
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902795_902795
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902596_902596
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902495_902495
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902492_902492
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_901015_901015
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900537_900537
 
 
  Unknown
 
 
  MIR548A2
 
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
 
 
  Unknown
 
 
  MIR548A2
 
engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900182_900182
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900160_900160
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB787931_1007853911
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB774739_1007872529
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB543816_1007853746
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB369176_1007843525
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB295710_1007841796
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB246144_1007852649
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB182205_0057061577
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB133359_1007842669
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-control110036015030_
 
 
  Unknown
 
 
  0 genes
 
kanduri_15_ASD_discovery_controls-control_split1211
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SLITRK6(dist=1089617),MIR4500HG(dist=406386)
 
kanduri_15_ASD_discovery_controls-control_split1932
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SPRY2(dist=1004116)
 
kanduri_15_ASD_discovery_controls-control_split437
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SLITRK6(dist=909669),MIR4500HG(dist=633142)
 
kanduri_15_ASD_discovery_controls-control_split474
 
 
  Unknown
 
 
  LINC00333 (non-coding RNA, exonic)
 
kanduri_15_ASD_discovery_controls-control_split902
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SLITRK6(dist=1089617),MIR4500HG(dist=406386)
 
kanduri_15_ASD_discovery_controls-control_split963
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SLITRK1(dist=659725)
 

No Animal Model Data Available
HELP