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3p21.31CNV Type: Deletion-Duplication


Largest CNV size: 150350 bp

Statistics Box:
Number of Reports: 14



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Deletion-Complex
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 3971
 2
 0
 2
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 7069
 3
 1
 4
 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
 171244
 1
 4
 5
 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
 163613
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 392001
 0
 1
 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
 790488
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 148891
 3
 4
 7
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 150350
 1
 2
 3
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 109701
 0
 1
 1
 mulle_13_SCZ_discovery_cases_1
 SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
 554
 Diagnosis of schizophrenia based on meeting DSM-IV citeria
 N/A
 N/A
 1024547
 N/A
 N/A
 2
 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
 
 
 99277
 1
 2
 3
 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)
 21166
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 56128
 2
 3
 5
 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
 144481
 3
 6
 9

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_controls
 Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
 584
 Control (unaffected siblings from simplex quad families)
 N/A
 N/A
 4099
 1
 0
 1
 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
 300407
 0
 5
 5
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 166931
 0
 3
 3
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 44273
 0
 1
 1
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 mulle_13_SCZ_discovery_controls_1
 Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
 1014
 Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 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)
 39411
 2
 0
 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)
 56128
 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.
 
 23261
 0
 2
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 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_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 mulle_13_SCZ_discovery_cases_1
  Ashkenazi Jewish
 Array SNP
  Affymetrix 6.0
 GLAD, GADA, BEAST
 Affymetrix power tools software v1.12.0
 Solid phase hybridization
 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)
 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
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_replication_controls
  N/A
  WGS
  Illumina HiSeq X10
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13a_ASD_discovery_controls1
  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_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  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_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  mulle_13_SCZ_discovery_controls_1
  Ashkenazi Jewish
  Array SNP
  Affymetrix 6.0
  GLAD, GADA, BEAST
  Affymetrix power tools software v1.12.0
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  qPCR
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_cases-case7-0135-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 47917956
 47919057
  1102
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseAU4092302
 N/A
 F
 ASD
 Case from MSSNG cohort
 
 46977213
 46981183
  3971
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11076
 NA
 M
 ASD
 NA
 NA
 47511106
 47511341
  236
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11452
 NA
 M
 ASD
 NA
 NA
 49684008
 49691077
  7070
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11510
 NA
 M
 ASD
 NA
 NA
 47243043
 47243220
  178
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11554
 NA
 M
 ASD
 NA
 NA
 50275562
 50275615
  54
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20137_1254001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 46668413
 46839657
  171245
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20182_1706001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 47886677
 47987628
  100952
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5007_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45204141
 45248467
  44327
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5218_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48246389
 48284409
  38021
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8428_203
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 47760211
 47809217
  49007
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-11415.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
 49887923
 50051536
  163614
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001821
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 47867990
 48259991
  392002
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case2974
 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.
 
 46721211
 47511698
  790488
 Unknown
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11345.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48247624
 48268786
  21163
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11415.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 49913219
 50062110
  148892
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11526.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 47510183
 47513590
  3408
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11775.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 49424803
 49429241
  4439
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13464.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48241171
 48268786
  27616
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13918.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 49174238
 49178538
  4301
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14477.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 49791713
 49813787
  22075
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11345.p1
 NA
 M
 ASD
 NA
 NA
 48235880
 48284040
  48161
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11415.p1
 NA
 M
 ASD
 NA
 NA
 49911072
 50061421
  150350
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11526.p1
 NA
 M
 ASD
 NA
 NA
 47509399
 47553671
  44273
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-MM0154-003
 NA
 F
 ASD
 NA
 NA
 50077063
 50186763
  109701
 GRCh38
 Duplication
 Yes
  mulle_13_SCZ_discovery_cases_1-caseAJ_8388_1
 N/A
 N/A
 Schizophrenia
 Case with complex 3p21.31 copy variant.
 N/A
 48689679
 49584813
  895135
 GRCh38
 Complex
 No
  mulle_13_SCZ_discovery_cases_1-caseAJ_8977_4
 N/A
 N/A
 Schizophrenia
 N/A
 N/A
 49632018
 50656567
  1024550
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5003_3
 NA
 F
 ASD
 Average language, no epilepsy, curved 5th finger, toe syndactyly
 Average IQ
 50098421
 50197697
  99277
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5007_3
 NA
 M
 Autism
 Anxiety, language delay, no epilepsy, no dysmorphic features
 Below average IQ
 45204141
 45248467
  44327
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5218_3
 NA
 M
 ASD
 NA
 NA
 48246389
 48284409
  38021
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case98HI0515B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU024703; NDAR ID NDAR_INVLW942VPU)
 
 48247623
 48268788
  21166
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case122715L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 45218416
 45264951
  46536
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case138150L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 47770375
 47826502
  56128
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case47607
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 45218416
 45264951
  46536
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case61180-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 49032523
 49052893
  20371
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case95578
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 48252164
 48300463
  48300
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 47201394
 47214567
  13174
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11345.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
 48246389
 48284409
  38021
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11415.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
 49911295
 50055776
  144482
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11883.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
 47193617
 47214567
  20951
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12041.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
 46961441
 46987746
  26306
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12057.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
 47141749
 47149859
  8111
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 47193617
 47205570
  11954
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 47193617
 47214567
  20951
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12749.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
 47193617
 47205570
  11954
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_controls-controlSSC09793
  N/A
  M
  control
  Control from SSC_phase2 cohort
 
  46977152
  46981250
  4099
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB495388_1007875285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  50394564
  50694971
  300408
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB666611_1007875265
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49911295
  50060904
  149610
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB681290_1007874840
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49682296
  49725905
  43610
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB845650_1007872152
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48057982
  48206990
  149009
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49409088
  49477567
  68480
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control12682.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  44568306
  44735237
  166932
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13833.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  49368427
  49429239
  60813
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13968.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  49305714
  49375589
  69876
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11526.s1
  NA
  F
  Control
  NA
  NA
  47509399
  47553671
  44273
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C28500A
  N/A
  M
  Control
  NIMH Control (NIMH ID 92463)
 
  47083718
  47123128
  39411
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C40140A
  N/A
  F
  Control
  NIMH Control (NIMH ID 89329)
 
  49274047
  49302544
  28498
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11375.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  48368884
  48392157
  23274
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11855.s1
  15.9
  F
  Control (matched sibling)
  NA
  NA
  47193617
  47205570
  11954
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-case7-0135-003
 No validation step reported
 
 Paternal
 
 
 MAP4
 
 brandler_18_ASD_replication_cases-caseAU4092302
 No validation step reported
 
 Maternal
 
 
 NBEAL2,CCDC12
 
 celestino-soper_11_ASD_discovery_cases-11076
 
 
 Unknown
 Simplex
 NA
 ELP6
 
 celestino-soper_11_ASD_discovery_cases-11452
 
 
 Unknown
 Simplex
 NA
 MST1,RNF123
 
 celestino-soper_11_ASD_discovery_cases-11510
 
 
 Unknown
 Simplex
 NA
 KIF9,KIF9-AS1
 
 celestino-soper_11_ASD_discovery_cases-11554
 
 
 Unknown
 Simplex
 NA
 SEMA3B
 
 engchuan_15_ASD_discovery_cases-case20137_1254001
 
 
 Unknown
 
 
 PRSS50,PRSS44,PRSS42,ALS2CL,TMIE,PRSS46P,PRSS45
 
 engchuan_15_ASD_discovery_cases-case20182_1706001
 
 
 Unknown
 
 
 VPS26BP1,MAP4
 
 engchuan_15_ASD_discovery_cases-case5007_3
 
 
 Unknown
 
 
 TMEM158
 
 engchuan_15_ASD_discovery_cases-case5218_3
 
 
 Unknown
 
 
 MRPS18AP1,ZNF589
 
 engchuan_15_ASD_discovery_cases-case8428_203
 
 
 Unknown
 
 
 SMARCC1,DHX30
 
 girirajan_13a_ASD_discovery_cases-11415.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 MST1R,MON1A,RBM6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001821
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 VPS26BP1,RN7SL664P,SNRPFP4,RNU7-128P,NDUFB1P1,MIR4443,CAMP,MRPS18AP1,CDC25A,ZNF589,MAP4
 
 kanduri_15_ASD_discovery_cases-case2974
 
 
 De novo
 Unknown
 Unknown
 ALS2CL,CCDC12,KIF9,KLHL18,MYL3,NBEAL2,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,SCAP,SETD2,TMIE
 
 krumm_15_ASD_discovery_cases-case11345.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 MRPS18AP1,ZNF589
 
 krumm_15_ASD_discovery_cases-case11415.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 MON1A,RBM6
 
 krumm_15_ASD_discovery_cases-case11526.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 ELP6
 
 krumm_15_ASD_discovery_cases-case11775.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 NICN1
 
 krumm_15_ASD_discovery_cases-case13464.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 MRPS18AP1,ZNF589
 
 krumm_15_ASD_discovery_cases-case13918.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 KLHDC8B,C3orf84
 
 krumm_15_ASD_discovery_cases-case14477.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 INKA1,MIR5193,CDHR4,UBA7
 
 levy_11_ASD_discovery_cases-11345.p1
 
 
 Paternal
 Simplex
 Segregated
 MRPS18AP1,ZNF589
 
 levy_11_ASD_discovery_cases-11415.p1
 
 
 Maternal
 Simplex
 Segregated
 MON1A,RBM6
 
 levy_11_ASD_discovery_cases-11526.p1
 
 
 Paternal
 Simplex
 Not segregated
 ELP6
 
 marshall_08_ASD_discovery_cases-MM0154-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RBM5-AS1,RBM5,SEMA3F-AS1,SEMA3F,RBM6
 
 mulle_13_SCZ_discovery_cases_1-caseAJ_8388_1
 
 
 De novo
 Unknown
 Unknown
 PRKAR2A-AS1,ARIH2OS,WDR6,MIR425,MIR191,IMPDH2,RN7SL182P,MIR6890,LAMB2,CCDC71,KLHDC8B,C3orf62,MIR4271,GPX1,RHOA-IT1,AMT,NICN1,RNA5SP130,BSN-DT,IP6K2,ARIH2,P4HTM,QRICH1,QARS,USP19,C3orf84,CCDC36,RHOA,DAG1,BSN,PRKAR2A,SLC25A20,DALRD3,NDUFAF3,TCTA,USP4
 
 mulle_13_SCZ_discovery_cases_1-caseAJ_8977_4
 Solid phase hybridization
 
 Unknown
 Unknown
 Unknown
 BSN-AS1,MST1,AMIGO3,GMPPB,COX6CP14,INKA1,MIR5193,CAMKV,RN7SL217P,ACTBP13,RBM5-AS1,GNAT1,MIR5787,SEMA3B-AS1,SEMA3B,MIR6872,IFRD2,HYAL1,HYAL2,TUSC2,RASSF1-AS1,ZMYND10-AS1,ZMYND10,TMEM115,CYB561D2,RNA5SP131,BSN,RNF123,IP6K1,CDHR4,TRAIP,MST1R,MON1A,RBM5,SEMA3F-AS1,SEMA3F,SLC38A3,GNAI2,LSMEM2,HYAL3,NAA80,NPRL2,C3orf18,CISH,MAPKAPK3,APEH,UBA7,RBM6,CACNA2D2,HEMK1,RASSF1
 
 pinto_10_ASD_discovery_cases-case5003_3
 qPCR, Affy500K (proband)
 
 paternal
 Multiplex (2 ASD sibs)
 Not segregated (one ASD sib with CNV, one without)
 RBM5 whole, SEMA3F exonic
 
 pinto_10_ASD_discovery_cases-case5007_3
 Agilent1M
 
 paternal
 Multiplex
 NA
 TMEM158
 
 pinto_10_ASD_discovery_cases-case5218_3
 Agilent1M
 
 paternal
 NA
 NA
 MRPS18AP1,ZNF589
 
 poultney_13_ASD_discovery_cases-case98HI0515B
 qPCR
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MRPS18AP1,ZNF589
 
 prasad_12_ASD_discovery_cases-case122715L
 
 
 Unknown
 Unknown
 Unknown
 TMEM158
 
 prasad_12_ASD_discovery_cases-case138150L
 
 
 Unknown
 Unknown
 Unknown
 DHX30,SMARCC1
 
 prasad_12_ASD_discovery_cases-case47607
 
 
 Unknown
 Unknown
 Unknown
 TMEM158
 
 prasad_12_ASD_discovery_cases-case61180-L
 
 
 Unknown
 Multiplex
 Unknown
 MIR425,DALRD3,MIR191,QRICH1,IMPDH2,NDUFAF3
 
 prasad_12_ASD_discovery_cases-case95578
 
 
 Unknown
 Unknown
 Unknown
 ZNF589
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 KIF9-AS1
 
 sanders_11_ASD_discovery_cases-11345.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 MRPS18AP1,ZNF589
 
 sanders_11_ASD_discovery_cases-11415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MON1A,RBM6
 
 sanders_11_ASD_discovery_cases-11883.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 KIF9-AS1
 
 sanders_11_ASD_discovery_cases-12041.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 NBEAL2,CCDC12
 
 sanders_11_ASD_discovery_cases-12057.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SETD2
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Paternal
 Simplex (trio)
 NA
 KIF9-AS1
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 KIF9-AS1
 
 sanders_11_ASD_discovery_cases-12749.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 KIF9-AS1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC09793
  No validation step reported
 
  Maternal
 
 
  NBEAL2,CCDC12
 
engchuan_15_ASD_discovery_controls-controlB495388_1007875285
 
 
  Unknown
 
 
  RNA5SP131,LINC02019,MIR4787,PPIAP69,C3orf18,CISH,MAPKAPK3,CACNA2D2,HEMK1,DOCK3
 
engchuan_15_ASD_discovery_controls-controlB666611_1007875265
 
 
  Unknown
 
 
  MON1A,RBM6
 
engchuan_15_ASD_discovery_controls-controlB681290_1007874840
 
 
  Unknown
 
 
  MST1,AMIGO3,GMPPB,RNF123,IP6K1,APEH
 
engchuan_15_ASD_discovery_controls-controlB845650_1007872152
 
 
  Unknown
 
 
  RN7SL664P,SNRPFP4,RNU7-128P,NDUFB1P1,MIR4443,CDC25A,MAP4
 
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
 
 
  Unknown
 
 
  AMT,NICN1,RNA5SP130,RHOA,DAG1,TCTA
 
krumm_15_ASD_discovery_controls-control12682.s1
  Illumina 1MDuo
 
  De novo
 
 
  ZNF197-AS1,ZNF35,SOCS5P3,ZNF502,ZNF501,ZNF660,MPRIPP1,ZNF197,ZKSCAN7,ZKSCAN7-AS1
 
krumm_15_ASD_discovery_controls-control13833.s1
  Omni2.5-4v1
 
  Paternal
 
 
  AMT,NICN1,RHOA,TCTA
 
krumm_15_ASD_discovery_controls-control13968.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GPX1,RHOA-IT1,RHOA,USP4
 
levy_11_ASD_discovery_controls-11526.s1
 
 
  Paternal
  Simplex
  NA
  ELP6
 
poultney_13_ASD_discovery_controls-control04C28500A
 
 
  Unknown
 
 
  SETD2
 
poultney_13_ASD_discovery_controls-control05C40140A
  qPCR
 
  Unknown
 
 
  C3orf62,MIR4271,USP4
 
sanders_11_ASD_discovery_controls-11375.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RN7SL321P,FBXW12
 
sanders_11_ASD_discovery_controls-11855.s1
 
 
  Maternal
  Simplex (quad)
  NA
  KIF9-AS1
 

No Animal Model Data Available
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