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13q31.1CNV Type: Deletion-Duplication


Largest CNV size: 557226 bp

Statistics Box:
Number of Reports: 16


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
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
Paternally inherited cis-regulatory structural variants are associated with autism.
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
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 akkus_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
 1227
 Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
 
 57.13% Male
 1867797
 1
 0
 1
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 25266
 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
 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
 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
 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
 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
 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
 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
 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
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 47032
 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
 
 
 55488
 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
 195156
 5
 2
 7
 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
 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
 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

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
 194827
 23
 4
 27
 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
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 226757
 6
 0
 6
 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
 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
 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
 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
 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
 akkus_24_ASD/DD/ID_discovery_cases
  Turkey
 Array SNP
  Affymetrix CytoScan Optima
 
 ThermoFisher ChAS v.3.1.
 
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 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
 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
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 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)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 salyakina_11_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
 PennCNV
 BeadStudio v3
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  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
 
  salyakina_11_ASD_discovery_controls
  727 Caucasian, 111 African-American
 
 
 
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  akkus_24_ASD/DD/ID_discovery_cases-case21C
  NA NA
 2 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, short stature
 Developmental delay/intellectual disability
 78685318
 80553114
  1867797
 GRCh38
 Deletion
 No
  brandler_18_ASD_discovery_cases-caseMT_45.3
 N/A
 M
 PDD-NOS
 Case from REACH cohort
 
 86606389
 86631655
  25267
 GRCh38
 Deletion
 Yes
  davis_09_ASD_discovery_cases-AU1376302
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: iris coloboma
 
 82986031
 83078785
  59905
 Unknown
 Duplication
 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)
 
 83528305
 83583792
  55488
 GRCh38
 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)
 
 80616743
 80656794
  40052
 GRCh38
 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)
 
 86735720
 86773649
  37930
 GRCh38
 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)
 
 83547510
 83650069
  102560
 GRCh38
 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)
 
 81427864
 81587764
  159901
 GRCh38
 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)
 
 83528305
 83583792
  55488
 GRCh38
 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)
 
 83524449
 83583792
  59344
 GRCh38
 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)
 
 79131788
 79188240
  56453
 GRCh38
 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)
 
 83528305
 83583792
  55488
 GRCh38
 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)
 
 80843761
 81003140
  159380
 GRCh38
 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)
 
 81618264
 81755946
  137683
 GRCh38
 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)
 
 85274904
 85550991
  276088
 GRCh38
 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)
 
 83528305
 83583792
  55488
 GRCh38
 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)
 
 86932259
 87011210
  78952
 GRCh38
 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)
 
 83528305
 83588661
  60357
 GRCh38
 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)
 
 86034461
 86090870
  56410
 GRCh38
 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)
 
 83528305
 83583792
  55488
 GRCh38
 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)
 
 83528305
 83583792
  55488
 GRCh38
 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)
 
 84062535
 84149242
  86708
 GRCh38
 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)
 
 83528305
 83583792
  55488
 GRCh38
 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)
 
 83528305
 83583792
  55488
 GRCh38
 Deletion
 No
  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.
 84073039
 84745303
  672265
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004365
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 80001586
 82838129
  2836544
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82224001
 83303969
  1079969
 GRCh38
 Deletion
 Yes
  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
 Unknown
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU3127302
 N/A
 M
 ASD
 
 
 80056865
 80553865
  497001
 GRCh38
 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).
 79847958
 79884002
  36045
 GRCh38
 Deletion
 No
  morrow_08_ASD_discovery_cases-case11401
 NA
 
 ASD
 NA
 NA
 82122000
 82354000
  232200
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case5201
 NA
 
 ASD
 NA
 NA
 81946000
 82043000
  97000
 Unknown
 Deletion
 No
  nord_11_ASD_discovery_cases-256-1
 
 
 ASD
 
 
 83476851
 83523882
  47032
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5107_3
 NA
 M
 ASD
 NA
 NA
 83528305
 83583792
  55488
 GRCh38
 Deletion
 Yes
  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
 Unknown
 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
 Unknown
 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
 Unknown
 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
 Unknown
 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
 Unknown
 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
 Unknown
 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
 Unknown
 Deletion
 No
  salyakina_11_ASD_discovery_cases-17142_001
 
 M
 PDD-NOS
 Overall low muscle tone, delayed language development
 
 78440355
 78445592
  5238
 GRCh38
 Deletion
 Yes
  salyakina_11_ASD_discovery_cases-17142_101
 
 M
 Autism
 
 
 78440355
 78445592
  5238
 GRCh38
 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.
 
 78440355
 78445592
  5238
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11027.p1
 9.3
 M
 ASD
 NA
 Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
 83528305
 83591536
  63232
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11030.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
 82618095
 82624816
  6722
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11037.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11092.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
 84709776
 84715637
  5862
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11168.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
 79847205
 79880401
  33197
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11181.p1
 6.3
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 101
 81670167
 82043627
  373461
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11206.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
 83528305
 83591536
  63232
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11274.p1
 11.6
 F
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11297.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
 83471778
 83492926
  21149
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11300.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
 83212382
 83217480
  5099
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11301.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11323.p1
 8.6
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
 83528305
 83591492
  63188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11333.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11347.p1
 15.7
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
 85281999
 85294188
  12190
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11352.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11396.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
 83372747
 83383942
  11196
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11440.p1
 8.2
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
 81380741
 81412959
  32219
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11466.p1
 9.2
 M
 Aspergers
 NA
 Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
 86386940
 86590602
  203663
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11518.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
 85227407
 85228572
  1166
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11520.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57
 82726134
 82757703
  31570
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11557.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 83214571
 83217480
  2910
 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
 86623216
 86810845
  187630
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11578.p1
 5.1
 M
 ASD
 NA
 Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
 84071374
 84092301
  20928
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11609.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 83372747
 83379558
  6812
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11665.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
 79845904
 79874399
  28496
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11677.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 83528305
 83591536
  63232
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11709.p1
 6.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59
 83532337
 83583792
  51456
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11724.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
 83588661
 83608464
  19804
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11765.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
 83528305
 83591492
  63188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11782.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
 81563388
 82120614
  557227
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11806.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11809.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11810.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
 83528305
 83588661
  60357
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11835.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
 83528305
 83583792
  55488
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11893.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
 83372747
 83379558
  6812
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11911.p1
 9.9
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
 85227407
 85228572
  1166
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 80566431
 80572261
  5831
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11995.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
 85227407
 85229952
  2546
 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
 83528305
 83591492
  63188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12026.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
 83528305
 83591536
  63232
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12033.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12093.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
 82617103
 82624816
  7714
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12096.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
 81755946
 81782378
  26433
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12103.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
 83214571
 83217480
  2910
 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
 85268615
 85275116
  6502
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12210.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12231.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43
 83528305
 83591492
  63188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12239.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12297.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12310.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12310.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12320.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
 83372747
 83379558
  6812
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12346.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 81804841
 81806147
  1307
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12390.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 97; verbal IQ, 75
 83372747
 83379558
  6812
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12392.p1
 7
 M
 ASD
 NA
 Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12407.p1
 9.4
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12420.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12420.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
 83372747
 83379558
  6812
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12430.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
 85227407
 85228572
  1166
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12438.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 81155249
 81224287
  69039
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12462.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12483.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12497.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
 83528305
 83602744
  74440
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12505.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
 83372747
 83379558
  6812
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12536.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 86654174
 86759219
  105046
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 84261084
 84293769
  32686
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 83524449
 83597221
  72773
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12647.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12669.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 91; verbal IQ, 120
 83528305
 83591492
  63188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12742.p1
 4.8
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12749.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 83528305
 83591536
  63232
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12832.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12894.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12948.p1
 17.9
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
 83648601
 83661541
  12941
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13001.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
 83528305
 83583792
  55488
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13005.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
 83213340
 83217480
  4141
 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
 80510929
 80571873
  60945
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13033.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
 83528305
 83591536
  63232
 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
 85284058
 85294188
  10131
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13048.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13174.p1
 10
 M
 Aspergers
 NA
 Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
 83528305
 83591492
  63188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13216.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
 86025639
 86090870
  65232
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13226.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
 83528305
 83603075
  74771
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13244.p1
 15.7
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63
 83214571
 83217480
  2910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13301.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
 85227407
 85229952
  2546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13322.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
 85227407
 85228572
  1166
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13324.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
 81755946
 81791630
  35685
 GRCh38
 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.
 
 85406648
 85451841
  45194
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036015030_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  81738563
  81782378
  43816
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB133359_1007842669
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83583792
  55488
  GRCh38
  Homozygous deletion
  No
  engchuan_15_ASD_discovery_controls-controlB182205_0057061577
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83588661
  60357
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB246144_1007852649
  N/A
  N/A
  Control
  No previous psychiatric history
 
  86518800
  86567392
  48593
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB295710_1007841796
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB369176_1007843525
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83506305
  83583792
  77488
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB472351_1007842232
  N/A
  N/A
  Control
  No previous psychiatric history
 
  86552583
  86667341
  114759
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB543816_1007853746
  N/A
  N/A
  Control
  No previous psychiatric history
 
  80997236
  81099338
  102103
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB774739_1007872529
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB787931_1007853911
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83597221
  68917
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900160_900160
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900182_900182
  N/A
  N/A
  Control
  No previous psychiatric history
 
  81849569
  81981085
  131517
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
  N/A
  N/A
  Control
  No previous psychiatric history
 
  86134336
  86185698
  51363
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
  N/A
  N/A
  Control
  No previous psychiatric history
 
  79131788
  79188240
  56453
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900537_900537
  N/A
  N/A
  Control
  No previous psychiatric history
 
  78823074
  78877121
  54048
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83692295
  83769555
  77261
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901015_901015
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83524449
  83583792
  59344
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83001963
  83057869
  55907
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
  N/A
  N/A
  Control
  No previous psychiatric history
 
  81335906
  81530733
  194828
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
  N/A
  N/A
  Control
  No previous psychiatric history
 
  86031153
  86090870
  59718
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902492_902492
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902495_902495
  N/A
  N/A
  Control
  No previous psychiatric history
 
  85227407
  85330441
  103035
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902596_902596
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902795_902795
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902824_902824
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83528305
  83583792
  55488
  GRCh38
  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
  Unknown
  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
  Unknown
  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
  Unknown
  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
  Unknown
  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
  Unknown
  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
  Unknown
  Deletion
  No
  nord_11_ASD_discovery_controls-04C27071
 
 
  Control
 
 
  80609008
  80944734
  335727
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28227
 
 
  Control
 
 
  82727560
  82793057
  65498
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11168.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  79852610
  79874399
  21790
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11181.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  81670167
  82043627
  373461
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11206.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  83528305
  83591536
  63232
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11274.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11296.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11323.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  83528305
  83591536
  63232
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11339.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  83298750
  83792956
  494207
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11345.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  85994449
  86060107
  65659
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11347.s1
  17
  M
  Control (matched sibling)
  NA
  NA
  85284058
  85294188
  10131
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11400.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  80843761
  81019613
  175853
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11413.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  80451957
  80465692
  13736
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  81380741
  81416038
  35298
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11453.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  83372747
  83379558
  6812
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11466.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  86386940
  86598401
  211462
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11474.s1
  19
  M
  Control (matched sibling)
  NA
  NA
  83552085
  83726274
  174190
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11502.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11520.s1
  10.8
  M
  Control (matched sibling)
  NA
  NA
  82726134
  82763303
  37170
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11520.s1
  10.8
  M
  Control (matched sibling)
  NA
  NA
  83902408
  83906605
  4198
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11550.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  86583547
  86686585
  103039
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11557.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11563.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  81755946
  81782378
  26433
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  86623216
  86810845
  187630
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  86873355
  86901087
  27733
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11578.s1
  10.8
  M
  Control (matched sibling)
  NA
  NA
  84071374
  84092301
  20928
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11627.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11666.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  82612931
  82624816
  11886
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11700.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  83588661
  83603075
  14415
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  83523737
  83602744
  79008
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11798.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11827.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  85227407
  85228572
  1166
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11835.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11855.s1
  15.9
  F
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11857.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11879.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  83528305
  83588661
  60357
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11894.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  85227407
  85229952
  2546
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11954.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  85210829
  85227458
  16630
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11990.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  83792956
  83817701
  24746
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12037.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  83528305
  83591492
  63188
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12096.s1
  9.7
  M
  Control (matched sibling)
  NA
  NA
  81755946
  81782378
  26433
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12113.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  85227407
  85229952
  2546
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12304.s1
  16.9
  M
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12320.s1
  23.3
  F
  Control (matched sibling)
  NA
  NA
  83372747
  83379558
  6812
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12331.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  82873095
  82877743
  4649
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12337.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  81255651
  81396707
  141057
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12337.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  84071374
  84294440
  223067
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12339.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12367.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  85227407
  85229952
  2546
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12409.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  79966768
  80007458
  40691
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12420.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  83372747
  83383942
  11196
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12441.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12497.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  83516247
  83591492
  75246
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12515.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  82617103
  82624816
  7714
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  86652604
  86759219
  106616
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  83528305
  83597221
  68917
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12618.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  85664215
  85675515
  11301
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12647.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  85227407
  85228572
  1166
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12669.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  83528305
  83588661
  60357
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12671.s1
  17.4
  F
  Control (matched sibling)
  NA
  NA
  83528305
  83583792
  55488
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12691.s1
  23.8
  M
  Control (matched sibling)
  NA
  NA
  78631277
  78634279
  3003
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12708.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  85227407
  85228572
  1166
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  83528305
  83591492
  63188
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12780.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  83372747
  83379558
  6812
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12785.s1
  16.8
  F
  Control (matched sibling)
  NA
  NA
  83515072
  83597221
  82150
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12832.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12838.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12892.s1
  15.4
  F
  Control (matched sibling)
  NA
  NA
  81798133
  81818557
  20425
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12921.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  79121692
  79138544
  16853
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12989.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  83528305
  83591536
  63232
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13001.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  84071374
  84092301
  20928
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13048.s1
  15.6
  F
  Control (matched sibling)
  NA
  NA
  83214571
  83217480
  2910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13048.s1
  15.6
  F
  Control (matched sibling)
  NA
  NA
  82708293
  82756030
  47738
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13057.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  85227407
  85228572
  1166
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13159.s1
  13.6
  M
  Control (matched sibling)
  NA
  NA
  84177275
  84213801
  36527
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13162.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  78440355
  78445592
  5238
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13174.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  83528305
  83591492
  63188
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13226.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  83528305
  83588661
  60357
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13322.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  85227407
  85228572
  1166
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13324.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  81755946
  81791630
  35685
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 akkus_24_ASD/DD/ID_discovery_cases-case21C
 
 
 Unknown
 
 
 NDFIP2,RBM26,CCT5P2,HSPD1P8,BCAS2P3,RPL21P111,RBM26-AS1,RNA5SP33,NDFIP2-AS1,NIPA2P5,LINC00331,LINC01080,LINC00382,LINC01038,LINC01068,RNU6-61P,SPRY2
 
 brandler_18_ASD_discovery_cases-caseMT_45.3
 SNP VCF
 
 De novo
 
 
 
 
 davis_09_ASD_discovery_cases-AU1376302
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 engchuan_15_ASD_discovery_cases-case13014_193
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13053_633
 
 
 Unknown
 
 
 HNRNPA1P31,PWWP2AP1
 
 engchuan_15_ASD_discovery_cases-case14109_1970
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14143_2410
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14179_2900
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14179_2900
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14203_3290
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case16029_1571001001
 
 
 Unknown
 
 
 BCAS2P3
 
 engchuan_15_ASD_discovery_cases-case20028_1134001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20045_1261001
 
 
 Unknown
 
 
 ARF4P4
 
 engchuan_15_ASD_discovery_cases-case20048_1265001
 
 
 Unknown
 
 
 PTMAP5
 
 engchuan_15_ASD_discovery_cases-case20160_1432001
 
 
 Unknown
 
 
 LINC00351
 
 engchuan_15_ASD_discovery_cases-case3310_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3615_3
 
 
 Unknown
 
 
 LINC00430
 
 engchuan_15_ASD_discovery_cases-case4336_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4390_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5107_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5257_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6002_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6030_6
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8497_202
 
 
 Unknown
 
 
 
 
 girirajan_11_ASD_discovery_cases-Si144
 
 
 Unknown
 Simplex
 
 MTND4P1,MTND5P3,LINC00333
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004365
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPRY2,RNU6-61P,HNRNPA1P31,PWWP2AP1,ARF4P4,LINC00377,DPPA3P3,LINC00564,RNU6-77P,HIGD1AP2,GYG1P2,LINC01080,PTMAP5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GYG1P2,RNU6-67P
 
 kanduri_15_ASD_discovery_cases-case3076
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, SLITRK1(dist=659725)
 
 leppa_16_ASD_discovery_cases-AU3127302
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected siblings)
 SPRY2,RNU6-61P
 
 lesca_12_EP_discovery_cases-caseDZ77
 
 
 Unknown
 Unknown
 Unknown
 LINC00382
 
 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
 
 nord_11_ASD_discovery_cases-256-1
 
 
 Maternal
 
 
 0 genes
 
 pinto_10_ASD_discovery_cases-case5107_3
 Agilent1M
 
 maternal
 NA
 NA
 
 
 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-case77203
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case77203
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case77405L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case85750
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 salyakina_11_ASD_discovery_cases-17142_001
 qPCR
 
 Paternal
 Multiplex
 Not segregated
 RNF219-AS1
 
 salyakina_11_ASD_discovery_cases-17142_101
 qPCR
 
 Paternal
 Multiplex
 Not segregated
 RNF219-AS1
 
 salyakina_11_ASD_discovery_cases-17142_106
 qPCR
 
 Maternal
 Simplex
 Unknown
 RNF219-AS1
 
 sanders_11_ASD_discovery_cases-11027.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11030.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11037.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11092.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC00382
 
 sanders_11_ASD_discovery_cases-11181.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PTMAP5
 
 sanders_11_ASD_discovery_cases-11206.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11274.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11297.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11300.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11301.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11323.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11333.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11347.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11352.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11396.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11440.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11466.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11518.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11520.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11557.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TXNL1P1
 
 sanders_11_ASD_discovery_cases-11578.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11609.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11665.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC00382
 
 sanders_11_ASD_discovery_cases-11677.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11709.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11724.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11765.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11782.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PTMAP5
 
 sanders_11_ASD_discovery_cases-11806.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11809.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11810.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11835.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11893.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11911.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11995.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12001.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12026.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12033.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12093.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12096.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12103.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12210.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12231.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12239.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12297.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12310.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12310.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12320.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12346.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12390.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12392.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12407.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12420.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12420.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12430.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12438.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12462.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12483.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12497.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12505.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12536.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TXNL1P1
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12647.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12669.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12742.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12749.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12832.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12894.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12948.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13001.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13005.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13019.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13033.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13174.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13216.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13226.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13244.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13301.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13322.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13324.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 yin_16_ASD_discovery_cases-case450
 
 
 Unknown
 Unknown
 Unknown
 LINC00351
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015030_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB133359_1007842669
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB182205_0057061577
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB246144_1007852649
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB295710_1007841796
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB369176_1007843525
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB543816_1007853746
 
 
  Unknown
 
 
  LINC00377
 
engchuan_15_ASD_discovery_controls-controlB774739_1007872529
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB787931_1007853911
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900160_900160
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900182_900182
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
 
 
  Unknown
 
 
  BCAS2P3
 
engchuan_15_ASD_discovery_controls-controlHABC_900537_900537
 
 
  Unknown
 
 
  HSPD1P8
 
engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901015_901015
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902492_902492
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902495_902495
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902596_902596
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902795_902795
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902824_902824
 
 
  Unknown
 
 
 
 
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)
 
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
  LINC00382
 
sanders_11_ASD_discovery_controls-11181.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PTMAP5
 
sanders_11_ASD_discovery_controls-11206.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11274.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11296.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11323.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11339.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11345.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11347.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11400.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ARF4P4
 
sanders_11_ASD_discovery_controls-11413.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11453.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11466.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11474.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11502.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11520.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11520.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11550.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11557.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11563.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TXNL1P1
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11578.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11627.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11666.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11700.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11798.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11827.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11835.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11855.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11857.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11879.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11894.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11954.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11990.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12037.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12096.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12113.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12304.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12320.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12331.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12337.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-77P,HIGD1AP2
 
sanders_11_ASD_discovery_controls-12337.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12339.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12367.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12409.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12420.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12441.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12497.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12515.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TXNL1P1
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12618.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12647.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12669.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12671.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12691.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNF219
 
sanders_11_ASD_discovery_controls-12708.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12780.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12785.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12832.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12838.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12892.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12921.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12989.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13001.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13048.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13048.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13057.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13159.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13162.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNF219-AS1
 
sanders_11_ASD_discovery_controls-13174.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13226.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13322.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13324.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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