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4q13.1CNV Type: Deletion-Duplication


Largest CNV size: 350707 bp

Statistics Box:
Number of Reports: 14


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
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 11428
 1
 0
 1
 brand_15_ASD_discovery_cases
 ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
 259
 Diagnosis of ASD
 N/A
 N/A
 249526
 0
 2
 2
 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
 1061583
 30
 4
 34
 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
 548197
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 1586088
 1
 2
 3
 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
 82000
 0
 1
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 10790
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 350707
 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
 
 
 12325
 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
 1326408
 3
 2
 5
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 46239
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 237414
 11
 13
 24
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 14118
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 2821102
 0
 2
 2

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
 388036
 32
 6
 38
 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.
 
 
 739613
 0
 1
 1
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 565839
 1
 2
 3
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 123256
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 1326408
 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.
 
 78928
 7
 1
 8
 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
 2821102
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 brand_15_ASD_discovery_cases
  N/A
 Long-insert WGS
  Long-insert whole genome sequencing
 LUMPY, cn.MOPS, SV classifier
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 aCGH (Agilent hotspot 2x400K)
 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
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 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
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 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
 
 
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 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
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  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
  brandler_18_ASD_replication_cases-case2-1561-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 61737022
 61748449
  11428
 GRCh38
 Deletion
 No
  brand_15_ASD_discovery_cases-case5
 N/A
 N/A
 ASD
 Long-insert WGS identified two dupINVdups involving chromosomes 16 and 4 in this case. Duplication previously identified by aCGH (chr4:64252512-64489926; hg19).
 
 63374994
 63624520
  249527
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case5
 N/A
 N/A
 ASD
 Long-insert WGS identified two dupINVdups involving chromosomes 16 and 4 in this case. Duplication not previously identified by aCGH.
 
 63624525
 63629505
  4981
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1142_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63243809
 63293532
  49724
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1153_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63243809
 63289584
  45776
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1171_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63243809
 63284948
  41140
 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)
 
 63829793
 63866325
  36533
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13082_963
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63775394
 63850643
  75250
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1323_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63253245
 63293532
  40288
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14028_530
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63829793
 63866325
  36533
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14104_1810
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63253245
 63293532
  40288
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14125_2190
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63253245
 63293532
  40288
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14140_2380
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63978785
 64035269
  56485
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14170_2760
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63162010
 63284948
  122939
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1949_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63243809
 63293532
  49724
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case21035_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 58747979
 59822171
  1074193
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3065_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63243809
 63289584
  45776
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3225_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 65662237
 65763257
  101021
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3554_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 64496225
 64866147
  369923
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4038_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63253245
 63289584
  36340
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4150_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 59440782
 59474621
  33840
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4163_100
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63233631
 63289584
  55954
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4248_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62069822
 62129052
  59231
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4441_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63103835
 63243809
  139975
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4549_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60111800
 60277367
  165568
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5262_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63243809
 63289584
  45776
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5304_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63821857
 63853462
  31606
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5317_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63821857
 63854044
  32188
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5336_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63272623
 63318964
  46342
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5350_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63821857
 63853462
  31606
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5350_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63243809
 63300673
  56865
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5353_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63821857
 63853462
  31606
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5371_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63829793
 63874791
  44999
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5410_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63243809
 63284948
  41140
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5415_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63821857
 63866325
  44469
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5447_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63193703
 63289584
  95882
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8705_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 65362024
 65401297
  39274
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case489-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 63704110
 64252307
  548198
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-38108110540
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 62809991
 63822925
  1012935
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-38108110540
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 62259992
 63846080
  1586089
 GRCh38
 Duplication
 Yes
  girirajan_13b_ASD_discovery_cases-6103100278
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 62608852
 62912459
  303608
 GRCh38
 Deletion
 No
  lesca_12_EP_discovery_cases-case025a
 NA
 M
 Epilepsy
 Phenotype: i-CSWSS. Seizure Characteristics: Awake, nocturnal. Autistic features: No. ADHD features: Yes. Other features: None.
 Initial cognitive development: Delayed. Cognitive regression: Yes.
 63128404
 63210743
  82340
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 63831751
 63842540
  10790
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-SK0188-003
 NA
 M
 ASD
 NA
 NA
 60713610
 61064316
  350707
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case13022_293
 NA
 M
 Autism
 Non-verbal
 MR
 63820936
 63833261
  12325
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case46685
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 63330036
 63362640
  32605
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case47005
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 60480359
 60521221
  40863
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case53664
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 61258761
 61605722
  346962
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case59640L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 60158627
 60212550
  53924
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case98320L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 63207927
 64534334
  1326408
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-327a1
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 65684901
 65731139
  46239
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11012.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
 59112414
 59122377
  9964
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11086.p1
 7.4
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 64957258
 64974862
  17605
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11225.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
 59112414
 59122377
  9964
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11390.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
 61560186
 61667129
  106944
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11390.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
 63734949
 63903800
  168852
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11509.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
 63802224
 63843910
  41687
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11616.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 61348270
 61410638
  62369
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11712.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
 62583135
 62602276
  19142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11712.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
 62726688
 62752468
  25781
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11723.p1
 6.9
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
 62782367
 62814493
  32127
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11781.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
 64125026
 64158672
  33647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11800.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 65276878
 65284951
  8074
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11841.p1
 10.4
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
 60500986
 60505860
  4875
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11878.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
 59112414
 59122377
  9964
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11931.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
 61540727
 61553708
  12982
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11938.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
 65163594
 65175253
  11660
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12058.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 122; verbal IQ, 139
 63103835
 63243809
  139975
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12130.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
 63386794
 63624208
  237415
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12260.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
 64260511
 64273585
  13075
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 65075488
 65079333
  3846
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12334.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 59112414
 59122377
  9964
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12565.p1
 10.6
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 64455732
 64557159
  101428
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12864.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
 62782367
 62814493
  32127
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13019.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
 62787417
 62819401
  31985
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 63829793
 63843910
  14118
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case195
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 59041305
 61862406
  2821102
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case196
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 59041305
 61862406
  2821102
 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-control110036014801_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63233631
  63284948
  51318
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036020196_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63293532
  40288
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036021343_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63233631
  63300673
  67043
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB250058_1007852610
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63289584
  36340
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB275079_1007852942
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63254768
  63293532
  38765
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB289384_1007874635
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63289584
  36340
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB326251_0067942627
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63284948
  31704
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB334479_1007875807
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63289584
  36340
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB334576_1007843533
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63289584
  36340
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB347545_0067942603
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63255580
  63289584
  34005
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB438466_1007853689
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63243809
  63289584
  45776
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB495514_1007854054
  N/A
  N/A
  Control
  No previous psychiatric history
 
  61820295
  61873956
  53662
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB519374_1007852901
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63103835
  63243809
  139975
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB532470_1007875811
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63289584
  36340
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB585576_1007875272
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63821857
  63854044
  32188
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB586615_1007875854
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65517565
  65559632
  42068
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB604814_1007873489
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63284948
  31704
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB620732_1007853359
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63243809
  63293532
  49724
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB649933_1007874697
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63293532
  40288
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB655399_1007854025
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63284948
  31704
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB704524_1007853382
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63243809
  63293532
  49724
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB737833_1007875235
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63243809
  63293532
  49724
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB740471_1007853550
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63103835
  63243809
  139975
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB740471_1007853550
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63284948
  31704
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB769494_1007846090
  N/A
  N/A
  Control
  No previous psychiatric history
 
  62782367
  62819401
  37035
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB820039_1007854195
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63284948
  31704
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB826617_0067942631
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63821857
  63854044
  32188
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB827334_1007874018
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63253245
  63300673
  47429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB927839_1007872300
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63243809
  63289584
  45776
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB955457_1007875817
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63255580
  63293532
  37953
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB980299_0067942608
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63265113
  63300673
  35561
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB999332_1007870352
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63233631
  63289584
  55954
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900043_900043
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63831878
  63882019
  50142
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900205_900205
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63103835
  63243809
  139975
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900235_900235
  N/A
  N/A
  Control
  No previous psychiatric history
 
  59655457
  60043493
  388037
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900484_900484
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63992773
  64158672
  165900
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900999_900999
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63477106
  63514987
  37882
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902807_902807
  N/A
  N/A
  Control
  No previous psychiatric history
 
  58840359
  59045064
  204706
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_01
  NA
  NA
  Control
  NA
  NA
  63217692
  63957305
  739614
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C26653
 
 
  Control
 
 
  61783326
  61794289
  10964
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C27173
 
 
  Control
 
 
  62697187
  63263025
  565839
  Unknown
  Duplication
 
  nord_11_ASD_discovery_controls-04C28187
 
 
  Control
 
 
  60055542
  60231823
  176282
  Unknown
  Duplication
 
  poultney_13_ASD_discovery_controls-control04C28197A
  N/A
  F
  Control
  NIMH Control (NIMH ID 54460)
 
  61946914
  62070169
  123256
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  64957258
  64990793
  33536
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11309.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  65609563
  65688491
  78929
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11476.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  63272623
  63300673
  28051
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12152.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  59145032
  59163698
  18667
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12162.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  63193703
  63223103
  29401
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  64957258
  64980933
  23676
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12939.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  60421468
  60493666
  72199
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12972.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  64957258
  64974862
  17605
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-case2-1561-003
 No validation step reported
 
 Paternal
 
 
 ADGRL3
 
 brand_15_ASD_discovery_cases-case5
 
 
 Paternal
 Simplex
 Unknown
 
 
 brand_15_ASD_discovery_cases-case5
 
 
 Paternal
 Simplex
 Unknown
 
 
 engchuan_15_ASD_discovery_cases-case1142_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case1153_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case1171_5
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13065_773
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13082_963
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case1323_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14028_530
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14104_1810
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14125_2190
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14140_2380
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14170_2760
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case1949_302
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case21035_1
 
 
 Unknown
 
 
 LINC02429
 
 engchuan_15_ASD_discovery_cases-case3065_5
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3225_3
 
 
 Unknown
 
 
 EPHA5-AS1,EPHA5
 
 engchuan_15_ASD_discovery_cases-case3554_3
 
 
 Unknown
 
 
 MTCO3P27,MTCYBP16,MTND6P16,MTND5P13,MTND4LP31,MTND3P24,MTCO3P28
 
 engchuan_15_ASD_discovery_cases-case4038_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4150_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4163_100
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4248_1
 
 
 Unknown
 
 
 RPS15AP17,ADGRL3-AS1,ADGRL3
 
 engchuan_15_ASD_discovery_cases-case4441_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4549_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5262_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5304_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5317_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5336_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5350_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5350_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5353_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5371_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5410_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5415_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5447_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8705_201
 
 
 Unknown
 
 
 EPHA5
 
 gazzellone_14_ASD_discovery_cases-case489-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-38108110540
 
 
 Unknown
 Unknown
 Unknown
 EXOC5P1,LARP1BP1
 
 girirajan_13b_ASD_discovery_cases-38108110540
 aCGH (Agilent hotspot 2x400K)
 
 De novo
 Unknown
 Unknown
 HMGN1P11,EXOC5P1,LARP1BP1
 
 girirajan_13b_ASD_discovery_cases-6103100278
 
 
 Unknown
 Unknown
 Unknown
 EXOC5P1
 
 lesca_12_EP_discovery_cases-case025a
 
 
 Unknown
 Unknown
 Unknown
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 
 
 marshall_08_ASD_discovery_cases-SK0188-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 MIR548AG1,LINC02496
 
 pinto_10_ASD_discovery_cases-case13022_293
 qPCR
 
 De novo
 NA
 NA
 0 genes
 
 prasad_12_ASD_discovery_cases-case46685
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case47005
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case53664
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case59640L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case98320L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-327a1
 qPCR
 
 Maternal
 Unknown
 Unknown
 EPHA5-AS1
 
 sanders_11_ASD_discovery_cases-11012.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02232
 
 sanders_11_ASD_discovery_cases-11225.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11390.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ADGRL3
 
 sanders_11_ASD_discovery_cases-11390.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11509.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11616.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 ADGRL3
 
 sanders_11_ASD_discovery_cases-11712.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11712.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11723.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11781.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11800.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11841.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11878.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11931.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ADGRL3
 
 sanders_11_ASD_discovery_cases-11938.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12058.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12130.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12260.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12334.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12565.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12864.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13019.p1
 
 
 Maternal
 Simplex (trio)
 NA
 EXOC5P1
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 
 
 yin_16_ASD_discovery_cases-case195
 
 
 Unknown
 Unknown
 Unknown
 RNU6-1325P,MIR548AG1,RPL17P19,LINC02429,LINC02496,LINC02271,ADGRL3
 
 yin_16_ASD_discovery_cases-case196
 
 
 Unknown
 Unknown
 Unknown
 RNU6-1325P,MIR548AG1,RPL17P19,LINC02429,LINC02496,LINC02271,ADGRL3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036014801_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036020196_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036021343_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB250058_1007852610
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB289384_1007874635
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB326251_0067942627
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB334479_1007875807
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB334576_1007843533
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB438466_1007853689
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB495514_1007854054
 
 
  Unknown
 
 
  ADGRL3
 
engchuan_15_ASD_discovery_controls-controlB519374_1007852901
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB532470_1007875811
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB585576_1007875272
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB586615_1007875854
 
 
  Unknown
 
 
  EPHA5
 
engchuan_15_ASD_discovery_controls-controlB604814_1007873489
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB620732_1007853359
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB649933_1007874697
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB655399_1007854025
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB704524_1007853382
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB737833_1007875235
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB740471_1007853550
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB740471_1007853550
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
 
 
  Unknown
 
 
  EXOC5P1
 
engchuan_15_ASD_discovery_controls-controlB820039_1007854195
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB826617_0067942631
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB827334_1007874018
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB927839_1007872300
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB955457_1007875817
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB980299_0067942608
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB999332_1007870352
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900043_900043
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900205_900205
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900235_900235
 
 
  Unknown
 
 
  RNU6-1325P
 
engchuan_15_ASD_discovery_controls-controlHABC_900484_900484
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900999_900999
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902807_902807
 
 
  Unknown
 
 
  LINC02429
 
girirajan_11_ASD_discovery_controls-NIMH_01
 
 
  Unknown
 
 
  LARP1BP1
 
nord_11_ASD_discovery_controls-04C26653
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C27173
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28187
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control04C28197A
 
 
  Unknown
 
 
  ADGRL3
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02232
 
sanders_11_ASD_discovery_controls-11309.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EPHA5-AS1,EPHA5
 
sanders_11_ASD_discovery_controls-11476.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12152.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12162.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC02232
 
sanders_11_ASD_discovery_controls-12939.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12972.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02232
 

No Animal Model Data Available
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