HELP     Sign In

15q25.3CNV Type: Deletion-Duplication


Largest CNV size: 600000 bp

Statistics Box:
Number of Reports: 16



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 600000
 1
 0
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 110839
 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
 421847
 3
 5
 8
 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
 102900
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 454120
 0
 2
 2
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 154678
 1
 0
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 100103
 2
 1
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 105866
 1
 6
 7
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 39300
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 100107
 1
 2
 3
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 14141
 1
 0
 1
 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
 1431477
 2
 0
 2
 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
 365019
 42
 2
 44
 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
 314378
 0
 1
 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
 19301
 1
 0
 1
 zhou_19_ASD_discovery_cases
 ASD probands from families recruited from training centers in Beijing and Tsingdao, China
 539
 Cases were diagnosed for ASD by ADI-R and ADOS
 4.92 1.20 years
 87.38% Male
 133000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 600000
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 337488
 11
 4
 15
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 154678
 1
 0
 1
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 26677
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 52240
 2
 1
 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)
 100107
 0
 2
 2
 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)
 14141
 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.
 
 188278
 29
 0
 29
 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
 314378
 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
 19301
 0
 0
 0
 zhou_19_ASD_discovery_controls
 Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
 512
 Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
 29.77 9.12 years
 76.17% Male
 N/A
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_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
 aCGH (NimbleGen 135K array)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 qPCR
 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
 zhou_19_ASD_discovery_cases
  Han Chinese
 Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
 XHMM v.1.0
 qPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  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
 
 
  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
  zhou_19_ASD_discovery_controls
  Han Chinese
  Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
  XHMM v.1.0
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  christian_08_ASD_discovery_cases-AU056103
 NA
 M
 ASD
 NA
 NA
 84562743
 85164833
  602091
 GRCh38
 Deletion
 Yes
  davis_09_ASD_discovery_cases-AU057905
 NA
 NA
 Non-syndromic ASD
 Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 85587147
 85697986
  110839
 Unknown
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13051_603
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 85272357
 85600273
  327917
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13122_1393
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 84917136
 84956998
  39863
 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)
 
 85251973
 85566351
  314379
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14242_3660
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 86620033
 86961734
  341702
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16067_1571134001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 86031945
 86366669
  334725
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16067_1571134001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 86649628
 86712517
  62890
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3609_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 85272357
 85579548
  307192
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5273_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 85178426
 85600273
  421848
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-11944.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
 88099313
 88202213
  102901
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002582
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 85327915
 85556913
  228999
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002793
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 85185563
 85639683
  454121
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1869
 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.
 
 87882097
 88036774
  154678
 Unknown
 Deletion
 No
  krumm_13_ASD_discovery_cases-case11092.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11092. SRS score of 76.
 Full-scale IQ (FSIQ) score of 109.
 85485720
 85585823
  100104
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12420.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12420. SRS score of 48.
 Full-scale IQ (FSIQ) score of 131.
 84918523
 84945200
  26678
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case12445.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12445. SRS score of 81.
 Full-scale IQ (FSIQ) score of 104.
 84918523
 84945200
  26678
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11092.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 85521427
 85585823
  64397
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12420.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 84918523
 84945200
  26678
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12558.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 85521427
 85585823
  64397
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12842.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 85485720
 85543955
  58236
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13119.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 85521427
 85585823
  64397
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13929.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 85521427
 85585823
  64397
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14219.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 85533583
 85639449
  105867
 GRCh38
 Duplication
 Yes
  morrow_08_ASD_discovery_cases-case5602
 NA
 
 ASD
 NA
 NA
 85632000
 85671000
  39300
 Unknown
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI4420A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1056301; NDAR ID NDAR_INVBK224THK)
 
 85485719
 85585825
  100107
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0868A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
 
 84920987
 84945202
  24216
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-caseHI4269
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0263302; NDAR ID NDAR_INVYB784VAR)
 
 85485719
 85585825
  100107
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case99408
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 85785964
 85800104
  14141
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 86840775
 88272251
  1431477
 GRCh38
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-017
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 84921267
 84956998
  35732
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11044.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ 112
 85968080
 85972985
  4906
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11073.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 84946702
 84950972
  4271
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11092.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
 85235254
 85600273
  365020
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11133.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
 87282457
 87331464
  49008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11144.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
 85466873
 85470434
  3562
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11229.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
 86215421
 86223137
  7717
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11299.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
 87285376
 87331464
  46089
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11356.p1
 11.5
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
 87285376
 87326793
  41418
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11383.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 95; verbal IQ, 95
 87285376
 87331464
  46089
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11505.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
 85797294
 85806589
  9296
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11523.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
 87285376
 87326793
  41418
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11622.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
 85968080
 85977902
  9823
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11630.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
 87282457
 87331464
  49008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11868.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
 87282457
 87326793
  44337
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11897.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
 87282457
 87326793
  44337
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 85968080
 85977902
  9823
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11981.p1
 6.6
 F
 Aspergers
 NA
 Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
 85968080
 85977902
  9823
 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
 88461260
 88485706
  24447
 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
 87674523
 87749332
  74810
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12096.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
 87282457
 87326793
  44337
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 87452856
 87463130
  10275
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12312.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
 87282457
 87331464
  49008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12404.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
 87282457
 87326793
  44337
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12420.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
 84917701
 84956998
  39298
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12420.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
 85968080
 85972985
  4906
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12429.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
 85968080
 85977902
  9823
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12445.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
 84917701
 84956998
  39298
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12476.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
 87282457
 87326793
  44337
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12540.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
 87452856
 87463130
  10275
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12558.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
 85272357
 85600273
  327917
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12682.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
 87282457
 87326793
  44337
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 88464841
 88485706
  20866
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12710.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
 87282457
 87326793
  44337
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12722.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
 87282457
 87326793
  44337
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12748.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
 87282457
 87320484
  38028
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12757.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
 88291078
 88296491
  5414
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12758.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
 85968080
 85977902
  9823
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12784.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
 87282457
 87331464
  49008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12836.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
 87282457
 87326793
  44337
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6.7
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 85797294
 85806589
  9296
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13097.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
 85797294
 85806897
  9604
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13168.p1
 7.9
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 85968080
 85978252
  10173
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13195.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
 87282457
 87331464
  49008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13337.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
 85968080
 85972985
  4906
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case8-14144-2420
 N/A
 M
 ASD
 N/A
 N/A
 85251973
 85566351
  314379
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case483
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 86251204
 86270504
  19301
 GRCh38
 Deletion
 No
  zhou_19_ASD_discovery_cases-caseAU078903
 N/A
 N/A
 ASD
 Diagnosis of ASD by ADI-R and ADOS.
 
 88126221
 88258731
  132511
 GRCh38
 Duplication
 Yes

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-controlB141230_1007874883
  N/A
  N/A
  Control
  No previous psychiatric history
 
  85251973
  85566351
  314379
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB197815_1007874845
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84917136
  84956998
  39863
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB333151_1007853867
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84917136
  84956998
  39863
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB413051_1007853900
  N/A
  N/A
  Control
  No previous psychiatric history
 
  85251973
  85566351
  314379
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB503964_1007875238
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84917136
  84956998
  39863
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB585396_1007852636
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84917136
  84956998
  39863
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB659155_1007854741
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84917136
  84956998
  39863
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB742876_1007852892
  N/A
  N/A
  Control
  No previous psychiatric history
 
  85237085
  85566351
  329267
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB769494_1007846090
  N/A
  N/A
  Control
  No previous psychiatric history
 
  87052074
  87117849
  65776
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB823925_0067942577
  N/A
  N/A
  Control
  No previous psychiatric history
 
  86944897
  87014673
  69777
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900118_900118
  N/A
  N/A
  Control
  No previous psychiatric history
 
  85262785
  85600273
  337489
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900343_900343
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84917875
  84956998
  39124
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900612_900612
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84917701
  84956998
  39298
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901147_901147
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84917701
  84956998
  39298
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902486_902486
  N/A
  N/A
  Control
  No previous psychiatric history
 
  86527816
  86719574
  191759
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split594
  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
 
  87882097
  88036774
  154678
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11241.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11241. SRS score of 38.
 
  84918523
  84945200
  26678
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11241.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  84918523
  84945200
  26678
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13929.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  85533583
  85585823
  52241
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14142.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  84918523
  84945200
  26678
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control05C40151A
  N/A
  F
  Control
  NIMH Control (NIMH ID 63888)
 
  85485719
  85585825
  100107
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C40538A
  N/A
  M
  Control
  NIMH Control (NIMH ID 21301)
 
  85485719
  85585825
  100107
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11059.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  87285376
  87346013
  60638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11091.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  87285376
  87334019
  48644
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11135.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  85968080
  85972985
  4906
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11144.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  85466873
  85470434
  3562
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  87363124
  87366884
  3761
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11197.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  87285376
  87326793
  41418
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11229.s1
  6.1
  M
  Control (matched sibling)
  NA
  NA
  86215421
  86223137
  7717
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11.9
  M
  Control (matched sibling)
  NA
  NA
  84918740
  84956998
  38259
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11256.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  85968080
  85972985
  4906
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11299.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  87285376
  87334263
  48888
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  87285376
  87326793
  41418
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11383.s1
  5.5
  M
  Control (matched sibling)
  NA
  NA
  87285376
  87326793
  41418
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11480.s1
  13.8
  F
  Control (matched sibling)
  NA
  NA
  85968080
  85972985
  4906
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11788.s1
  11.5
  M
  Control (matched sibling)
  NA
  NA
  87282457
  87326793
  44337
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11834.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  87282457
  87326793
  44337
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11868.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  87282457
  87326793
  44337
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  87282457
  87326793
  44337
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  85968080
  85977902
  9823
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12015.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  87674523
  87749332
  74810
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  85797294
  85806589
  9296
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12162.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  85968080
  85972985
  4906
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  87452856
  87463130
  10275
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12212.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  85968080
  85977902
  9823
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12652.s1
  4.1
  F
  Control (matched sibling)
  NA
  NA
  87282457
  87326793
  44337
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12701.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  85272357
  85460635
  188279
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12748.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  87282457
  87331464
  49008
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12836.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  87282457
  87320484
  38028
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13168.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  85968080
  85977902
  9823
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13195.s1
  10.1
  M
  Control (matched sibling)
  NA
  NA
  87282457
  87326793
  44337
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 christian_08_ASD_discovery_cases-AU056103
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 EGLN1P1,RNU6-339P,RNU6-796P,LINC00933,ZSCAN2,SCAND2P,WDR73,NMB,ALPK3,UBE2Q2P1,SEC11A,ZNF592,PDE8A,SLC28A1
 
 davis_09_ASD_discovery_cases-AU057905
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 engchuan_15_ASD_discovery_cases-case13051_603
 
 
 Unknown
 
 
 MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
 engchuan_15_ASD_discovery_cases-case13122_1393
 
 
 Unknown
 
 
 RNU6-339P,RNU6-796P,SLC28A1
 
 engchuan_15_ASD_discovery_cases-case14144_2420
 
 
 Unknown
 
 
 MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
 engchuan_15_ASD_discovery_cases-case14242_3660
 
 
 Unknown
 
 
 AGBL1
 
 engchuan_15_ASD_discovery_cases-case16067_1571134001
 
 
 Unknown
 
 
 RNA5SP400,AGBL1-AS1,LINC01584,AGBL1
 
 engchuan_15_ASD_discovery_cases-case16067_1571134001
 
 
 Unknown
 
 
 AGBL1
 
 engchuan_15_ASD_discovery_cases-case3609_3
 
 
 Unknown
 
 
 MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
 engchuan_15_ASD_discovery_cases-case5273_3
 
 
 Unknown
 
 
 NIFKP8,RN7SL428P,MIR7706,RNU7-79P,GOLGA6L3,CSPG4P12,ADAMTS7P4,AKAP13
 
 girirajan_13a_ASD_discovery_cases-11944.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 MED28P6,NTRK3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002582
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002793
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL428P,MIR7706,RNU7-79P,GOLGA6L3,CSPG4P12,ADAMTS7P4,AKAP13
 
 kanduri_15_ASD_discovery_cases-case1869
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, AGBL1(dist=309814),LINC00052(dist=83386)
 
 krumm_13_ASD_discovery_cases-case11092.p1
 
 
 Maternal
 Simplex
 Segregated
 AKAP13
 
 krumm_13_ASD_discovery_cases-case12420.p1
 
 
 Maternal
 Simplex
 Segregated
 RNU6-339P,RNU6-796P,SLC28A1
 
 krumm_13_ASD_discovery_cases-case12445.p1
 
 
 Maternal
 Simplex
 Segregated
 RNU6-339P,RNU6-796P,SLC28A1
 
 krumm_15_ASD_discovery_cases-case11092.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 AKAP13
 
 krumm_15_ASD_discovery_cases-case12420.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RNU6-339P,RNU6-796P,SLC28A1
 
 krumm_15_ASD_discovery_cases-case12558.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 AKAP13
 
 krumm_15_ASD_discovery_cases-case12842.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 AKAP13
 
 krumm_15_ASD_discovery_cases-case13119.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 AKAP13
 
 krumm_15_ASD_discovery_cases-case13929.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AKAP13
 
 krumm_15_ASD_discovery_cases-case14219.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 AKAP13
 
 morrow_08_ASD_discovery_cases-case5602
 
 
 Unknown
 NA
 NA
 0 genes
 
 poultney_13_ASD_discovery_cases-case05HI4420A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 AKAP13
 
 poultney_13_ASD_discovery_cases-case99HI0868A
 qPCR
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU6-339P,RNU6-796P,SLC28A1
 
 poultney_13_ASD_discovery_cases-caseHI4269
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 AKAP13
 
 prasad_12_ASD_discovery_cases-case99408
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
 qPCR
 
 Unknown
 Unknown
 Unknown
 RNU6-185P,LINC00052,MED28P6,NTRK3-AS1,AGBL1,NTRK3
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-017
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 RNU6-339P,RNU6-796P,SLC28A1
 
 sanders_11_ASD_discovery_cases-11044.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11092.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MIR7706,RNU7-79P,GOLGA6L3,ADAMTS7P4,AKAP13
 
 sanders_11_ASD_discovery_cases-11133.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11144.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AKAP13
 
 sanders_11_ASD_discovery_cases-11229.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL1
 
 sanders_11_ASD_discovery_cases-11299.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11356.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11383.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11505.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11523.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11622.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11630.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11868.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11897.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11981.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12009.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MRPL46,MRPS11
 
 sanders_11_ASD_discovery_cases-12015.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12096.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12312.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12404.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12420.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-339P,RNU6-796P,SLC28A1
 
 sanders_11_ASD_discovery_cases-12420.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12429.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12445.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-339P,RNU6-796P,SLC28A1
 
 sanders_11_ASD_discovery_cases-12476.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12540.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12558.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
 sanders_11_ASD_discovery_cases-12682.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MRPL46,MRPS11
 
 sanders_11_ASD_discovery_cases-12710.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12722.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12748.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12757.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12758.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12784.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12836.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13097.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13168.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13195.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13337.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 walker_13_ASD_discovery_cases-case8-14144-2420
 
 
 Unknown
 Simplex
 Unknown
 MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
 yin_16_ASD_discovery_cases-case483
 
 
 Unknown
 Unknown
 Unknown
 AGBL1
 
 zhou_19_ASD_discovery_cases-caseAU078903
 qPCR
 
 Maternal
 
 
 MED28P6,NTRK3-AS1,NTRK3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB141230_1007874883
 
 
  Unknown
 
 
  MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
engchuan_15_ASD_discovery_controls-controlB197815_1007874845
 
 
  Unknown
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
 
 
  Unknown
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
engchuan_15_ASD_discovery_controls-controlB413051_1007853900
 
 
  Unknown
 
 
  MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
engchuan_15_ASD_discovery_controls-controlB503964_1007875238
 
 
  Unknown
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
engchuan_15_ASD_discovery_controls-controlB585396_1007852636
 
 
  Unknown
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
engchuan_15_ASD_discovery_controls-controlB659155_1007854741
 
 
  Unknown
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
 
 
  Unknown
 
 
  MIR7706,RNU7-79P,GOLGA6L3,ADAMTS7P4,AKAP13
 
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB823925_0067942577
 
 
  Unknown
 
 
  AGBL1
 
engchuan_15_ASD_discovery_controls-controlHABC_900118_900118
 
 
  Unknown
 
 
  MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
engchuan_15_ASD_discovery_controls-controlHABC_900343_900343
 
 
  Unknown
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
engchuan_15_ASD_discovery_controls-controlHABC_900612_900612
 
 
  Unknown
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
engchuan_15_ASD_discovery_controls-controlHABC_901147_901147
 
 
  Unknown
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
engchuan_15_ASD_discovery_controls-controlHABC_902486_902486
 
 
  Unknown
 
 
  AGBL1
 
kanduri_15_ASD_discovery_controls-control_split594
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, AGBL1(dist=309814),LINC00052(dist=83386)
 
krumm_13_ASD_discovery_controls-control11241.s1
 
 
  Paternal
  Simplex
 
  RNU6-339P,RNU6-796P,SLC28A1
 
krumm_15_ASD_discovery_controls-control11241.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
krumm_15_ASD_discovery_controls-control13929.s1
  Omni2.5-4v1
 
  Paternal
 
 
  AKAP13
 
krumm_15_ASD_discovery_controls-control14142.s1
  Omni2.5-4v1
 
  Maternal
 
 
  RNU6-339P,RNU6-796P,SLC28A1
 
poultney_13_ASD_discovery_controls-control05C40151A
 
 
  Unknown
 
 
  AKAP13
 
poultney_13_ASD_discovery_controls-control05C40538A
 
 
  Unknown
 
 
  AKAP13
 
sanders_11_ASD_discovery_controls-11059.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11091.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11135.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11144.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AKAP13
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11197.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11229.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AGBL1
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-339P,RNU6-796P,SLC28A1
 
sanders_11_ASD_discovery_controls-11256.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11299.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11383.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11480.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11788.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11834.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11868.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12015.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12162.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12212.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12652.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12701.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR7706,RNU7-79P,ADAMTS7P4,AKAP13
 
sanders_11_ASD_discovery_controls-12748.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12836.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13168.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13195.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

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