HELP     Sign In

3p24.3CNV Type: Deletion-Duplication


Largest CNV size: 512302 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-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 561000
 0
 1
 1
 ching_10_ASD/DD/MR_discovery_cases
 Subjects referred to Children's Hospital Boston from March 2007 to Jan. 2009
 3540
 Developmental disorders [autism spectrum disorders (ASD), developmental delay (DD), and/or mental retardation (MR)] or multiple congenital malformations
 
 
 314000
 1
 0
 1
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 103168
 1
 0
 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
 512301
 7
 18
 25
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 14691
 1
 0
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 347406
 0
 1
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 122829
 2
 0
 2
 handrigan_13_ASD/DD/ID_discovery_cases
 Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
 35
 22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
 Range, 0 mos.-20 yrs.
 48.57% Male
 27471
 1
 0
 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
 4498299
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 56445
 1
 0
 1
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 40000
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 40378
 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
 
 
 512302
 2
 1
 3
 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
 1422212
 3
 1
 4
 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
 105538
 22
 9
 31
 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
 154300
 1
 1
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 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
 430512
 3
 13
 16
 handrigan_13_ASD/DD/ID_discovery_controls
 Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
 11019
 Control
 NA
 NA
 NA
 NA
 NA
 NA
 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
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 144963
 1
 0
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 1422212
 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.
 
 148973
 16
 9
 25
 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
 154300
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 ching_10_ASD/DD/MR_discovery_cases
 
 aCGH
  Agilent 244K
 ADM-2
 Agilent Feature Extraction V9.0, Agilent CGH Analytics V3.4
 None
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 handrigan_13_ASD/DD/ID_discovery_cases
  NA
 aCGH, solid phase hybridization
  Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
 
 
 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
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR
 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
 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
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  handrigan_13_ASD/DD/ID_discovery_controls
  NA
  N/A
  N/A
 
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  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
  chen_17_ASD_discovery_cases-caseU-925
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 13 (past score 28); Qualitative abnormalities in verbal and nonverbal communication, current score 10 (past score 16); Qualitative abnormalities in nonverbal communication, current score 3 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 7); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 104; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 29. Epilepsy: no history of epilepsy.
 Performance IQ 95, Verbal IQ 109, Full-scale IQ 103
 19242123
 19803162
  561040
 GRCh38
 Duplication
 Yes
  ching_10_ASD/DD/MR_discovery_cases-case8
 11 yrs.
 F
 Mental retardation
 Expressive & receptive language delay. Behavioral features: inattention, fidgety, disorganized. Dysmorphic features: long face, malar hypoplasia, prominent tubular nose with pointed nasal tip, hypoplastic alae nase, long flat philtrum, thin vermilion, prominent chin, long slender fingers, thin toes.
 Mental retardation. WISC-IV: Verbal Comprehension Index, 67; Perceptual Reasoning Index, 63; Working Memory Index, 59; Processing Speed Index, 75; Full-scale IQ, 58 (testing at 11 yrs.)
 21476268
 21790328
  314061
 GRCh38
 Deletion
 No
  egger_14_ASD_discovery_cases-caseA200
 N/A
 N/A
 ASD
 CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 
 17638725
 17741892
  103168
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13065_773
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14089_1530
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21200444
 21304147
  103704
 GRCh38
 Duplication
 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)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14382_4950
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14417_5260
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21131649
 21199656
  68008
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20043_1258001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21016_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3140_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3174_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19904565
 20080336
  175772
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case3218_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 17353123
 17445151
  92029
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3569_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22515664
 22567421
  51758
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4142_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4310_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4372_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5065_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 17477561
 17525728
  48168
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5122_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16215170
 16403074
  187905
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5220_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19111502
 19623803
  512302
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case5341_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22237005
 22302080
  65076
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5451_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 17353123
 17445151
  92029
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5543_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5558_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6332_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20389440
 20459976
  70537
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8549_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23330408
 23675281
  344874
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8589_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8630_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19638916
 19700529
  61614
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000030
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S36
 N/A
 16477051
 16491742
  14692
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1523304
 
 
 Autism
 
 
 15165591
 15512996
  347406
 Unknown
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case528-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 21997959
 22061654
  63696
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case690-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 19631372
 19754201
  122830
 GRCh38
 Deletion
 No
  handrigan_13_ASD/DD/ID_discovery_cases-patient3
 4 yrs.
 M
 ASD
 Neurodevelopmental abnormalities: autism. Urological abnormalities: none reported. Other features: no dysmorphic features. Growth parameters: height 75th %ile, weight 75th %ile.
 
 23220930
 23248401
  27472
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004939
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18253476
 20137057
  1883582
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005239
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18179713
 22678013
  4498301
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12336.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 17372074
 17428519
  56446
 GRCh38
 Deletion
 Yes
  napoli_17_ASD_discovery_cases-case3
 N/A
 F
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XX
 
 23334313
 23374585
  40273
 GRCh38
 Deletion
 Yes
  nord_11_ASD_discovery_cases-206-1
 
 
 ASD
 
 
 17439361
 17479738
  40378
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case3174_003
 NA
 M
 Autism
 Language delay, some gross and fine motor coordination difficulties, no dysmorphic features or associated medical or psychiatric problems, no epilepsy. Brother with 16p12.1 CNV: Autism, low average IQ, language delay, some mild dysmorphic facial features, no epilepsy
 Low average IQ
 19904565
 20080336
  175772
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5065_3
 NA
 M
 Autism
 Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
 Below average nonverbal IQ (<1%ile)
 17477561
 17525728
  48168
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5220_3
 NA
 F
 ASD
 No language delay, no epilepsy; born with asymmetric head, fontanelle closed at age 4 y; dysmorphic features
 Average IQ
 19111502
 19623803
  512302
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case60836
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 17489235
 17546548
  57314
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case76222
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 18952987
 18974361
  21375
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85179L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 15114173
 16536384
  1422212
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case94755
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 19100800
 19640381
  539582
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13.9
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11092.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11107.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 37; verbal IQ, 25
 15948724
 15970201
  21478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11164.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11165.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
 17112238
 17134100
  21863
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11290.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
 20951876
 20953465
  1590
 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
 20346613
 20361701
  15089
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11480.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
 21204187
 21278626
  74440
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11497.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
 20263740
 20271525
  7786
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 17391891
 17497429
  105539
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11714.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
 20510546
 20546080
  35535
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11860.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
 21783586
 21798379
  14794
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11939.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
 22419545
 22453612
  34068
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11963.p1
 6.1
 M
 ASD
 NA
 Full-scale IQ, 93; non-verbal IQ, 90; verbal IQ, 104
 21677056
 21681208
  4153
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11964.p1
 12.4
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
 17120076
 17134100
  14025
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11996.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
 20951876
 20953465
  1590
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12028.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
 20897641
 20905491
  7851
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12071.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
 22039669
 22058294
  18626
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12114.p1
 16.7
 F
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 20951876
 20953465
  1590
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12336.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 132; verbal IQ, 104
 17353123
 17448409
  95287
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12350.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
 17908535
 17922492
  13958
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12507.p1
 18
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12561.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12729.p1
 17
 F
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 80; verbal IQ, 70
 22570888
 22582888
  12001
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12790.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
 23716050
 23728642
  12593
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12851.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
 20951876
 20953465
  1590
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13016.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 21215817
 21304147
  88331
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13053.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
 23192099
 23256088
  63990
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 17907737
 17918134
  10398
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13193.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 17120076
 17126529
  6454
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case98
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 19283984
 19354961
  70978
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case99
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 23265605
 23419904
  154300
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036024719_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21215817
  21304147
  88331
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB264147_1007873345
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22521953
  22568038
  46086
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB412301_1007874436
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21215817
  21304147
  88331
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB445877_1007854331
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21209827
  21304147
  94321
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB650197_1007854049
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19418085
  19769770
  351686
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB881240_1007875262
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21215817
  21304147
  88331
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB966200_1007843929
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21742519
  22173031
  430513
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900118_900118
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21215817
  21310145
  94329
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900303_900303
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22990734
  23134376
  143643
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900304_900304
  N/A
  N/A
  Control
  No previous psychiatric history
 
  17413693
  17554844
  141152
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900439_900439
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23343288
  23675281
  331994
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900501_900501
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21215817
  21304147
  88331
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900589_900589
  N/A
  N/A
  Control
  No previous psychiatric history
 
  17287017
  17384022
  97006
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900615_900615
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21215817
  21304147
  88331
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901167_901167
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21215817
  21304147
  88331
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901194_901194
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21220857
  21304147
  83291
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12197.s1
  NA
  F
  Control
  NA
  NA
  17433200
  17578162
  144963
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11071.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  21215817
  21304147
  88331
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11092.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  21215817
  21304147
  88331
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11142.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  18197551
  18206474
  8924
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11146.s1
  9.7
  M
  Control (matched sibling)
  NA
  NA
  20736258
  20756722
  20465
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11164.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  21215817
  21292354
  76538
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  20346613
  20352408
  5796
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11480.s1
  13.8
  F
  Control (matched sibling)
  NA
  NA
  21215817
  21296966
  81150
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11484.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  21196314
  21224048
  27735
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11622.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  17907737
  17918134
  10398
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  20951876
  20953465
  1590
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11860.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  21783586
  21796184
  12599
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11939.s1
  12.4
  M
  Control (matched sibling)
  NA
  NA
  22419545
  22453612
  34068
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11964.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  17120076
  17134100
  14025
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  22539890
  22545531
  5642
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12071.s1
  19.6
  M
  Control (matched sibling)
  NA
  NA
  22039669
  22050715
  11047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12086.s1
  25.2
  M
  Control (matched sibling)
  NA
  NA
  17315583
  17339888
  24306
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12197.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  17431854
  17580827
  148974
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12329.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  21217702
  21296966
  79265
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12369.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  17908535
  17918134
  9600
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12507.s1
  26.1
  F
  Control (matched sibling)
  NA
  NA
  21215817
  21304147
  88331
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12523.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  21215817
  21296966
  81150
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12729.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  22570888
  22582888
  12001
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12939.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  17120076
  17134100
  14025
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13072.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  17120076
  17134100
  14025
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13136.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  17120076
  17134100
  14025
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chen_17_ASD_discovery_cases-caseU-925
 RT-qPCR
 
 Paternal
 
 
 MIR4791,KCNH8
 
 ching_10_ASD/DD/MR_discovery_cases-case8
 
 
 Maternal
 Unknown
 Unknown
 ZNF385D-AS1,ZNF385D
 
 egger_14_ASD_discovery_cases-caseA200
 
 
 Unknown
 
 Unknown
 RNU7-10P,TBC1D5
 
 engchuan_15_ASD_discovery_cases-case13065_773
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14089_1530
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14143_2410
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14382_4950
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14417_5260
 
 
 Unknown
 
 
 SGO1-AS1
 
 engchuan_15_ASD_discovery_cases-case20043_1258001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case21016_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3140_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3174_3
 
 
 De novo
 
 
 HSPA8P18,RNU4-85P,SAP18P3,RPL39P18,RAB5A,PP2D1,KAT2B,EFHB
 
 engchuan_15_ASD_discovery_cases-case3218_3
 
 
 Unknown
 
 
 TBC1D5
 
 engchuan_15_ASD_discovery_cases-case3569_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4142_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4310_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4372_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5065_3
 
 
 Unknown
 
 
 TBC1D5
 
 engchuan_15_ASD_discovery_cases-case5122_3
 
 
 Unknown
 
 
 DPH3,GALNT15,OXNAD1,RFTN1
 
 engchuan_15_ASD_discovery_cases-case5220_3
 
 
 De novo
 
 
 MIR4791,KCNH8
 
 engchuan_15_ASD_discovery_cases-case5341_3
 
 
 Unknown
 
 
 ZNF385D
 
 engchuan_15_ASD_discovery_cases-case5451_3
 
 
 Unknown
 
 
 TBC1D5
 
 engchuan_15_ASD_discovery_cases-case5543_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5558_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6332_3
 
 
 Unknown
 
 
 SGO1-AS1
 
 engchuan_15_ASD_discovery_cases-case8549_201
 
 
 Unknown
 
 
 RNU6-922P,RNU6-788P,UBE2E2
 
 engchuan_15_ASD_discovery_cases-case8589_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8630_201
 
 
 Unknown
 
 
 
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000030
 
 
 De novo
 Unknown
 Unknown
 RFTN1
 
 gai_11_ASD_discovery_cases-AU1523304
 
 
 Inherited
 
 
 DVWA, CAPN7, SH3BP5, SH3BP5, METTL6, EAF1, COLQ
 
 gazzellone_14_ASD_discovery_cases-case528-3
 
 
 Unknown
 Unknown
 Unknown
 ZNF385D
 
 gazzellone_14_ASD_discovery_cases-case690-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 handrigan_13_ASD/DD/ID_discovery_cases-patient3
 
 
 Unknown
 Unknown
 Unknown
 UBE2E2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004939
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RAD23BP1,RNU6-138P,MIR4791,HSPA8P18,RNU4-85P,SAP18P3,RPL39P18,RAB5A,PP2D1,SATB1,KCNH8,KAT2B,TBC1D5,SATB1-AS1,EFHB
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005239
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RAD23BP1,RNU6-138P,MIR4791,HSPA8P18,RNU4-85P,SAP18P3,RPL39P18,MIR3135A,RNU6-822P,RNU6-815P,VENTXP7,HMGB1P5,RAB5A,PP2D1,ZNF385D-AS1,ZNF385D-AS2,SATB1,KCNH8,KAT2B,SGO1,TBC1D5,SATB1-AS1,EFHB,SGO1-AS1,ZNF385D
 
 krumm_15_ASD_discovery_cases-case12336.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 TBC1D5
 
 napoli_17_ASD_discovery_cases-case3
 RT-PCR
 
 Unknown
 
 
 UBE2E2
 
 nord_11_ASD_discovery_cases-206-1
 
 
 Maternal
 
 
 TBC1D5
 
 pinto_10_ASD_discovery_cases-case3174_003
 Agilent1M
 
 De novo
 Multiplex
 Not segregated
 HSPA8P18,RNU4-85P,SAP18P3,RPL39P18,RAB5A,PP2D1,KAT2B,EFHB
 
 pinto_10_ASD_discovery_cases-case5065_3
 Agilent1M
 
 maternal
 Multiplex
 Unknown
 TBC1D5
 
 pinto_10_ASD_discovery_cases-case5220_3
 qPCR, Agilent 1M
 
 De novo
 NA
 NA
 MIR4791,KCNH8
 
 prasad_12_ASD_discovery_cases-case60836
 
 
 Unknown
 Unknown
 Unknown
 TBC1D5
 
 prasad_12_ASD_discovery_cases-case76222
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case85179L
 
 
 Unknown
 Unknown
 Unknown
 OXNAD1,ZFYVE20,EAF1,HACL1,GALNTL2,METTL6,COLQ,CAPN7,SH3BP5,RFTN1,DPH3,MIR563,MIR4270,COL6A4P1,BTD,ANKRD28
 
 prasad_12_ASD_discovery_cases-case94755
 
 
 Unknown
 Unknown
 Unknown
 KCNH8
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11092.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11107.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11164.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11165.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11290.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SGO1-AS1
 
 sanders_11_ASD_discovery_cases-11440.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SGO1-AS1
 
 sanders_11_ASD_discovery_cases-11480.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11497.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 RNU6-822P,SGO1-AS1
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Unknown
 Simplex (trio)
 NA
 TBC1D5
 
 sanders_11_ASD_discovery_cases-11714.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SGO1-AS1
 
 sanders_11_ASD_discovery_cases-11860.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF385D
 
 sanders_11_ASD_discovery_cases-11939.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11963.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ZNF385D
 
 sanders_11_ASD_discovery_cases-11964.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11996.p1
 
 
 Both parents
 Simplex (trio)
 NA
 SGO1-AS1
 
 sanders_11_ASD_discovery_cases-12028.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SGO1-AS1
 
 sanders_11_ASD_discovery_cases-12071.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF385D
 
 sanders_11_ASD_discovery_cases-12114.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SGO1-AS1
 
 sanders_11_ASD_discovery_cases-12336.p1
 
 
 Paternal
 Simplex (trio)
 NA
 TBC1D5
 
 sanders_11_ASD_discovery_cases-12350.p1
 
 
 Unknown
 Simplex (trio)
 NA
 TBC1D5
 
 sanders_11_ASD_discovery_cases-12507.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12561.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12729.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12790.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12851.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SGO1-AS1
 
 sanders_11_ASD_discovery_cases-13016.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13053.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 UBE2E2-AS1,UBE2E2
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TBC1D5
 
 sanders_11_ASD_discovery_cases-13193.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 yin_16_ASD_discovery_cases-case98
 
 
 Unknown
 Unknown
 Unknown
 MIR4791,KCNH8
 
 yin_16_ASD_discovery_cases-case99
 
 
 Unknown
 Unknown
 Unknown
 UBE2E2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036024719_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB264147_1007873345
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB412301_1007874436
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB445877_1007854331
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB650197_1007854049
 
 
  Unknown
 
 
  KCNH8
 
engchuan_15_ASD_discovery_controls-controlB881240_1007875262
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
 
 
  Unknown
 
 
  ZNF385D-AS2,ZNF385D
 
engchuan_15_ASD_discovery_controls-controlHABC_900118_900118
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900303_900303
 
 
  Unknown
 
 
  SALL4P5,RPL24P7
 
engchuan_15_ASD_discovery_controls-controlHABC_900304_900304
 
 
  Unknown
 
 
  TBC1D5
 
engchuan_15_ASD_discovery_controls-controlHABC_900439_900439
 
 
  Unknown
 
 
  RNU6-922P,RNU6-788P,UBE2E2
 
engchuan_15_ASD_discovery_controls-controlHABC_900501_900501
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900589_900589
 
 
  Unknown
 
 
  TBC1D5
 
engchuan_15_ASD_discovery_controls-controlHABC_900615_900615
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901167_901167
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901194_901194
 
 
  Unknown
 
 
 
 
levy_11_ASD_discovery_controls-12197.s1
 
 
  Paternal
  Simplex
  NA
  TBC1D5
 
sanders_11_ASD_discovery_controls-11071.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11092.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11142.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TBC1D5
 
sanders_11_ASD_discovery_controls-11146.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SGO1-AS1
 
sanders_11_ASD_discovery_controls-11164.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SGO1-AS1
 
sanders_11_ASD_discovery_controls-11480.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11484.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11622.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TBC1D5
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SGO1-AS1
 
sanders_11_ASD_discovery_controls-11860.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF385D
 
sanders_11_ASD_discovery_controls-11939.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11964.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12071.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF385D
 
sanders_11_ASD_discovery_controls-12086.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TBC1D5
 
sanders_11_ASD_discovery_controls-12197.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TBC1D5
 
sanders_11_ASD_discovery_controls-12329.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12369.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TBC1D5
 
sanders_11_ASD_discovery_controls-12507.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12523.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12729.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12939.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13072.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13136.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 

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