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5q21.1CNV Type: Deletion-Duplication


Largest CNV size: 286036 bp

Statistics Box:
Number of Reports: 17


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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 al_shehhi_18_ASD/DD/ID_discovery_cases
 Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
 34
 94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
 Range, 1 month-24 years
 61.76% Male
 165942
 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
 473119
 35
 5
 40
 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
 
 
 252801
 0
 1
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 378527
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 1382000
 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
 74442
 1
 0
 1
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 66931
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 46853
 0
 1
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 500000
 1
 0
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 140540
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 63638
 0
 1
 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
 
 
 74398
 4
 0
 4
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 121304
 1
 1
 2
 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
 89943
 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
 254129
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 286036
 18
 7
 25
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 260418
 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
 504255
 3
 0
 3

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
 813472
 28
 15
 43
 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
 408732
 1
 0
 1
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 146330
 2
 1
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 46853
 0
 2
 2
 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)
 89943
 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.
 
 286036
 10
 1
 11
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 260418
 N/A
 N/A
 N/A
 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
 504255
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 al_shehhi_18_ASD/DD/ID_discovery_cases
  Ireland
 aCGH
  Platform N/A
 
 
 Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 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
 
 None
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 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_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
 
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  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
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  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
  al_shehhi_18_ASD/DD/ID_discovery_cases-case27
 20 yrs.
 M
 ASD and developmental delay
 ASD, speech and language delay
 No learning disability
 101494971
 101660912
  165942
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case1260_10
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99473329
  38889
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13017_223
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101432247
 101702340
  270094
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13079_933
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100079605
 100333952
  254348
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13088_1053
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100333952
 100443855
  109904
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13100_1173
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99989106
 100110409
  121304
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14000_30
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100401592
 100448412
  46821
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14008_170
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99581904
 100055023
  473120
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14121_2140
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 98482226
 98587996
  105771
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14144_2420
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101770294
 102030712
  260419
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14325_4390
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 98228092
 98338982
  110891
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20012_1062002
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99241429
 99297701
  56273
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20164_1684001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101717041
 101760311
  43271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21014_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99989106
 100110409
  121304
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3031_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100401592
 100500696
  99105
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3424_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99473329
  38889
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3425_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 98032866
 98077883
  45018
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3440_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97978817
 98142851
  164035
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3441_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 102139802
 102186972
  47171
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3448_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99989106
 100110409
  121304
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3570_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99473329
  38889
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4208_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99473329
  38889
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4218_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99473329
  38889
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4240_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99473329
  38889
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4260_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100406660
 100500696
  94037
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4298_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100511208
 100580029
  68822
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4421_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103152867
 103183264
  30398
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4422_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99473329
  38889
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5055_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99989106
 100110409
  121304
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5204_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100292247
 100366644
  74398
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5205_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101423577
 101486554
  62978
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5295_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 98043480
 98111891
  68412
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5335_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 98553032
 98653345
  100314
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5358_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100197945
 100278897
  80953
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8616_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 102139802
 102186972
  47171
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8626_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101099725
 101149712
  49988
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8638_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101720181
 101760311
  40131
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8662_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99482349
  47909
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8663_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99482349
  47909
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8701_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99434441
 99482349
  47909
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8709_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100079605
 100333952
  254348
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1342302
 
 
 Autism
 
 
 99162459
 99415259
  252801
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU073703
 
 
 Autism
 
 
 100110254
 100488780
  378527
 Unknown
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13982.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 99966397
 101346397
  1380001
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-32505103937
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 99432659
 99507101
  74443
 GRCh38
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1881
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 98779530
 98809033
  29504
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1918
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 101019270
 101086200
  66931
 Unknown
 Duplication
 No
  krumm_15_ASD_discovery_cases-case13982.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100856102
 100902955
  46854
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU073703
 N/A
 M
 ASD
 
 
 100726296
 101255296
  529001
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case115103
 N/A
 M
 DCD/RD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
 
 101589864
 101730403
  140540
 GRCh38
 Deletion
 Yes
  nord_11_ASD_discovery_cases-212-1
 
 
 ASD
 
 
 101468794
 101532431
  63638
 Unknown
 Duplication
 No
  pinto_10_ASD_discovery_cases-case1260_10
 NA
 M
 ASD
 NA
 NA
 99434441
 99473329
  38889
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5204_5
 NA
 M
 ASD
 NA
 NA
 100292247
 100366644
  74398
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5205_3
 NA
 M
 ASD
 NA
 NA
 101423577
 101486554
  62978
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5295_4
 NA
 M
 ASD
 NA
 NA
 98043480
 98111891
  68412
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case20164_1684001
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 101675611
 101760311
  84701
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case9770_201
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 99989106
 100110409
  121304
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case168866
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 101040843
 101119148
  78306
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case44307
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 99655429
 99730524
  75096
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case53696
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 99553235
 99643177
  89943
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case58629
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 100788525
 100836252
  47728
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case62345L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 102399765
 102420580
  20816
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-108
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: possible diagnosis. Seizures: no.
 Developmental delay: yes. Intellectual disability: N/A.
 100346258
 100600386
  254129
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11014.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
 99434441
 99473329
  38889
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11032.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
 102184208
 102222379
  38172
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11365.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
 99434441
 99467058
  32618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11474.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
 101099725
 101149712
  49988
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11619.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 105; verbal IQ, 108
 103035933
 103053288
  17356
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11620.p1
 16.5
 M
 ASD
 NA
 Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
 99357685
 99445399
  87715
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11700.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 80
 101626822
 101696604
  69783
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11825.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
 98598184
 98599173
  990
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11851.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 92; verbal IQ, 121
 103035933
 103053288
  17356
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12009.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 102198077
 102233841
  35765
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12015.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
 98598184
 98599173
  990
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12046.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
 101720181
 101760311
  40131
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12061.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
 101675611
 101693040
  17430
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12061.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
 101717041
 101760311
  43271
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12150.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
 101675611
 101693040
  17430
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12150.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
 101720181
 101760311
  40131
 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
 103035933
 103053288
  17356
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12440.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 99434441
 99467058
  32618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12469.p1
 10.7
 M
 Aspergers
 NA
 Full-scale IQ, 125; non-verbal IQ, 105; verbal IQ, 151
 102139802
 102186972
  47171
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12534.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
 100722372
 100727335
  4964
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12606.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
 103035933
 103053288
  17356
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12621.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 96
 98185740
 98469632
  283893
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12759.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
 101628488
 101770294
  141807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12809.p1
 5.6
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
 101859080
 101916574
  57495
 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
 99434441
 99473329
  38889
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case8-14144-2420
 N/A
 M
 ASD
 N/A
 N/A
 101770294
 102030712
  260419
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case224
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 99310576
 99814830
  504255
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case225
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 100255138
 100513939
  258802
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case226
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 100255138
 100513939
  258802
 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-control110036010999_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99983462
  100110409
  126948
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036016616_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99989106
  100110409
  121304
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036018174_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100197945
  100278897
  80953
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036018406_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102297906
  102409315
  111410
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036023109_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99893594
  99989599
  96006
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036025062_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99419020
  99473329
  54310
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB136270_1007872262
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97963110
  98018968
  55859
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB236372_0067942637
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102139802
  102210935
  71134
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB266791_1007871681
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101069098
  101882570
  813473
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB269978_1007875858
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99434441
  99473329
  38889
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB312215_1007873706
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100406660
  100500696
  94037
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB343432_1007844537
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102147279
  102206080
  58802
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB400963_1007854338
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101856989
  101912568
  55580
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB452714_1007872596
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99434441
  99473329
  38889
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB529567_1007875209
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100401592
  100500696
  99105
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB728427_1007854311
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97997738
  98202133
  204396
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB742453_1007844402
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99490514
  99721923
  231410
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB759051_1007875185
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100110335
  100198392
  88058
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB828423_1007875117
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101859080
  101912568
  53489
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB926850_1007876051
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100401592
  100522313
  120722
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB993989_1007854998
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99983462
  100110409
  126948
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900028_900028
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100406660
  100506295
  99636
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900212_900212
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101439903
  101508337
  68435
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900256_900256
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100197945
  100278897
  80953
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900444_900444
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102139802
  102186972
  47171
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99765932
  99798856
  32925
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900619_900619
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101263523
  101296324
  32802
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900677_900677
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102139802
  102186972
  47171
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100406660
  100506295
  99636
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99434441
  99467058
  32618
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901037_901037
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100406660
  100506295
  99636
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901086_901086
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99989106
  100110409
  121304
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901103_901103
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103044553
  103134183
  89631
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901117_901117
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100270947
  100385249
  114303
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902516_902516
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102139802
  102186972
  47171
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902568_902568
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100406660
  100506295
  99636
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902576_902576
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99989106
  100110409
  121304
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902592_902592
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100406660
  100506295
  99636
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902625_902625
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99434441
  99467058
  32618
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99268304
  99458086
  189783
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902810_902810
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103156266
  103278405
  122140
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99434441
  99473329
  38889
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902823_902823
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99899029
  99989599
  90571
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-55105104410
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  100138912
  100547644
  408733
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1591
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  98779530
  98809033
  29504
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1761
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  99518198
  99664527
  146330
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split341
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  101019270
  101086200
  66931
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control13773.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  102373351
  102399742
  26392
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13982.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100856102
  100902955
  46854
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11201.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  99408302
  99473329
  65028
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11365.s1
  13.1
  F
  Control (matched sibling)
  NA
  NA
  99434441
  99507387
  72947
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11471.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  97997738
  98043480
  45743
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11620.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  99357685
  99445399
  87715
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11700.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  101626822
  101702340
  75519
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12150.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  101725219
  101760311
  35093
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12198.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  103035933
  103053288
  17356
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12469.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  102139802
  102186972
  47171
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12534.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  100722372
  100727335
  4964
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12621.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  98185740
  98469632
  283893
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12656.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  99434441
  99473329
  38889
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 al_shehhi_18_ASD/DD/ID_discovery_cases-case27
 Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
 
 Maternal
 
 
 RN7SL802P
 
 engchuan_15_ASD_discovery_cases-case1260_10
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13017_223
 
 
 Unknown
 
 
 RN7SL802P
 
 engchuan_15_ASD_discovery_cases-case13079_933
 
 
 Unknown
 
 
 RNU6-1119P
 
 engchuan_15_ASD_discovery_cases-case13088_1053
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13100_1173
 
 
 Unknown
 
 
 EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
 engchuan_15_ASD_discovery_cases-case14000_30
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14008_170
 
 
 Unknown
 
 
 EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
 engchuan_15_ASD_discovery_cases-case14121_2140
 
 
 Unknown
 
 
 CTBP2P4
 
 engchuan_15_ASD_discovery_cases-case14144_2420
 
 
 Unknown
 
 
 OR7H2P
 
 engchuan_15_ASD_discovery_cases-case14325_4390
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20012_1062002
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20164_1684001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case21014_1
 
 
 Unknown
 
 
 EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
 engchuan_15_ASD_discovery_cases-case3031_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3424_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3425_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3440_3
 
 
 Unknown
 
 
 LINC01846
 
 engchuan_15_ASD_discovery_cases-case3441_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3448_3
 
 
 Unknown
 
 
 EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
 engchuan_15_ASD_discovery_cases-case3570_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4208_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4218_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4240_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4260_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4298_1
 
 
 Unknown
 
 
 FAM174A
 
 engchuan_15_ASD_discovery_cases-case4421_1
 
 
 Unknown
 
 
 PPIP5K2
 
 engchuan_15_ASD_discovery_cases-case4422_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5055_3
 
 
 Unknown
 
 
 EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
 engchuan_15_ASD_discovery_cases-case5204_5
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5205_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5295_4
 
 
 Unknown
 
 
 LINC01846
 
 engchuan_15_ASD_discovery_cases-case5335_3
 
 
 Unknown
 
 
 CTBP2P4
 
 engchuan_15_ASD_discovery_cases-case5358_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8616_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8626_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8638_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8662_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8663_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8701_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8709_201
 
 
 Unknown
 
 
 RNU6-1119P
 
 gai_11_ASD_discovery_cases-AU1342302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU073703
 
 
 Inherited
 
 
 ST8SIA4
 
 girirajan_13a_ASD_discovery_cases-13982.p1
 
 
 Unknown
 Simplex
 Unknown
 EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22,RNU6-1119P,RN7SKP62,MIR548P,FAM174A,ST8SIA4
 
 girirajan_13b_ASD_discovery_cases-32505103937
 
 
 Unknown
 Unknown
 Unknown
 
 
 kanduri_15_ASD_discovery_cases-case1881
 
 
 Paternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, LOC100289230(dist=512817),LOC100133050(dist=906176)
 
 kanduri_15_ASD_discovery_cases-case1918
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, ST8SIA4(dist=780281),SLCO4C1(dist=483492)
 
 krumm_15_ASD_discovery_cases-case13982.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ST8SIA4
 
 leppa_16_ASD_discovery_cases-AU073703
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 RN7SKP62,MIR548P,ST8SIA4
 
 mosca_16_DCD_discovery_cases-case115103
 qPCR
 
 De novo
 Simplex
 Segregated
 
 
 nord_11_ASD_discovery_cases-212-1
 
 
 Maternal
 
 
 0 genes
 
 pinto_10_ASD_discovery_cases-case1260_10
 Illumina550
 
 paternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5204_5
 Agilent1M
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5205_3
 Agilent1M
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5295_4
 Agilent1M
 
 paternal
 NA
 NA
 LINC01846
 
 pinto_14_ASD_discovery_cases2-case20164_1684001
 qPCR
 
 Maternal
 Simplex
 (no siblings)
 
 
 pinto_14_ASD_discovery_cases2-case9770_201
 qPCR
 
 Maternal
 Simplex
 (not tested)
 EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
 prasad_12_ASD_discovery_cases-case168866
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case44307
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case53696
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case58629
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case62345L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-108
 qPCR
 
 Unknown
 Unknown
 Unknown
 FAM174A
 
 sanders_11_ASD_discovery_cases-11014.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11032.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11365.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11474.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11619.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11620.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11700.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11851.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12009.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12015.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12061.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12061.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12150.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12150.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12440.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12469.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12606.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12621.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 KRT8P32,MRPS35P2,MTCO2P24,MTCO1P24
 
 sanders_11_ASD_discovery_cases-12759.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12809.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13053.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 walker_13_ASD_discovery_cases-case8-14144-2420
 
 
 Unknown
 Simplex
 Unknown
 OR7H2P
 
 yin_16_ASD_discovery_cases-case224
 
 
 Unknown
 Unknown
 Unknown
 GUSBP8,LINC02113
 
 yin_16_ASD_discovery_cases-case225
 
 
 Unknown
 Unknown
 Unknown
 
 
 yin_16_ASD_discovery_cases-case226
 
 
 Unknown
 Unknown
 Unknown
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036010999_
 
 
  Unknown
 
 
  EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
engchuan_15_ASD_discovery_controls-control110036016616_
 
 
  Unknown
 
 
  EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
engchuan_15_ASD_discovery_controls-control110036018174_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036018406_
 
 
  Unknown
 
 
  RN7SKP68,SLCO6A1
 
engchuan_15_ASD_discovery_controls-control110036023109_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036025062_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB136270_1007872262
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB236372_0067942637
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB266791_1007871681
 
 
  Unknown
 
 
  RN7SL802P,OR7H2P
 
engchuan_15_ASD_discovery_controls-controlB269978_1007875858
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB312215_1007873706
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB343432_1007844537
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB400963_1007854338
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB452714_1007872596
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB529567_1007875209
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB728427_1007854311
 
 
  Unknown
 
 
  LINC01846
 
engchuan_15_ASD_discovery_controls-controlB742453_1007844402
 
 
  Unknown
 
 
  GUSBP8,LINC02113
 
engchuan_15_ASD_discovery_controls-controlB759051_1007875185
 
 
  Unknown
 
 
  RNU6-1119P
 
engchuan_15_ASD_discovery_controls-controlB828423_1007875117
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB926850_1007876051
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB993989_1007854998
 
 
  Unknown
 
 
  EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
engchuan_15_ASD_discovery_controls-controlHABC_900028_900028
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900212_900212
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900256_900256
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900444_900444
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900619_900619
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900677_900677
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901037_901037
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901086_901086
 
 
  Unknown
 
 
  EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
engchuan_15_ASD_discovery_controls-controlHABC_901103_901103
 
 
  Unknown
 
 
  GIN1,PPIP5K2
 
engchuan_15_ASD_discovery_controls-controlHABC_901117_901117
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902516_902516
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902568_902568
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902576_902576
 
 
  Unknown
 
 
  EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
 
engchuan_15_ASD_discovery_controls-controlHABC_902592_902592
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902625_902625
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902810_902810
 
 
  Unknown
 
 
  C5orf30,PPIP5K2
 
engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902823_902823
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-55105104410
 
 
  Unknown
 
 
  RNU6-1119P,FAM174A
 
kanduri_15_ASD_discovery_controls-control_split1591
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, LOC100289230(dist=512817),LOC100133050(dist=906176)
 
kanduri_15_ASD_discovery_controls-control_split1761
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, LOC100289230(dist=1251485),LOC100133050(dist=50682)
 
kanduri_15_ASD_discovery_controls-control_split341
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ST8SIA4(dist=780281),SLCO4C1(dist=483492)
 
krumm_15_ASD_discovery_controls-control13773.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SLCO6A1
 
krumm_15_ASD_discovery_controls-control13982.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ST8SIA4
 
sanders_11_ASD_discovery_controls-11201.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11365.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11471.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11620.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11700.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12150.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12198.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12469.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12534.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12621.s1
 
 
  Maternal
  Simplex (quad)
  NA
  KRT8P32,MRPS35P2,MTCO2P24,MTCO1P24
 
sanders_11_ASD_discovery_controls-12656.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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