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4q32.2CNV Type: Deletion-Duplication


Largest CNV size: 975254 bp

Statistics Box:
Number of Reports: 6


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 925382
 4
 1
 5
 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
 
 
 70593
 1
 0
 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
 
 
 63264
 2
 0
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 157453
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 975254
 0
 1
 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
 29913
 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
 150965
 7
 29
 36

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
 186455
 4
 2
 6
 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
 16283
 0
 2
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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)
 161246
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 29913
 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.
 
 73466
 7
 20
 27

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 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
 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
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  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
 
 
  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
 
 

Cases

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_cases-case14154_2530
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160868635
 161794017
  925383
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case18088_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160909586
 161045427
  135842
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18174_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 161099011
 161169603
  70593
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6185_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 161391520
 161584231
  192712
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8712_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 162347904
 162401249
  53346
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1060301
 
 
 Autism
 
 
 161099011
 161169603
  70593
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU084503
 
 
 Autism
 
 
 162953212
 163016475
  63264
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU084505
 
 
 Autism
 
 
 162953378
 163016475
  63098
 Unknown
 Deletion
 No
  levy_11_ASD_discovery_cases-12341.p1
 NA
 M
 ASD
 NA
 NA
 162101168
 162258620
  157453
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-SK0012-003
 NA
 M
 ASD
 NA
 NA
 161108645
 162083898
  975254
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case161584L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 162821352
 162851264
  29913
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60490L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 162821352
 162851264
  29913
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11096.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
 161031076
 161075039
  43964
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11110.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
 160930151
 161008398
  78248
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11148.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11193.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11298.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 141; non-verbal IQ, 132; verbal IQ, 143
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11360.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
 160644218
 160658267
  14050
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 160940488
 161008398
  67911
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11390.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
 161910554
 161986681
  76128
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11412.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85
 161034677
 161082472
  47796
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11433.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
 162263499
 162277762
  14264
 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
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11657.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
 160940488
 161008398
  67911
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11722.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
 161024137
 161082472
  58336
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11841.p1
 10.4
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 163033940
 163036504
  2565
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12062.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 126; verbal IQ, 120
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12091.p1
 4.4
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
 162265183
 162277762
  12580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12101.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
 160940488
 161008398
  67911
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12206.p1
 17.1
 M
 Aspergers
 NA
 Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12227.p1
 12.4
 M
 Autism
 NA
 Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12243.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12274.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
 160940488
 161008398
  67911
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12310.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
 161024137
 161082472
  58336
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12341.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
 162107821
 162258786
  150966
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12417.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12623.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95
 161031076
 161081425
  50350
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12651.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
 161031076
 161080830
  49755
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12665.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
 163033940
 163036504
  2565
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12670.p1
 10.5
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 160940488
 161008398
  67911
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12754.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 125; verbal IQ, 115
 161031076
 161085672
  54597
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 160717667
 160782808
  65142
 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
 161031076
 161082472
  51397
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13043.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 127; verbal IQ, 111
 160940488
 161008398
  67911
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 163033940
 163036504
  2565
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13327.p1
 12.6
 M
 Aspergers
 NA
 Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
 160940488
 161008398
  67911
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB460767_1007853871
  N/A
  N/A
  Control
  No previous psychiatric history
 
  161099011
  161169603
  70593
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB784802_1007846124
  N/A
  N/A
  Control
  No previous psychiatric history
 
  161598701
  161643307
  44607
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB921878_0067943241
  N/A
  N/A
  Control
  No previous psychiatric history
 
  161099011
  161169603
  70593
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900181_900181
  N/A
  N/A
  Control
  No previous psychiatric history
 
  162659119
  162845574
  186456
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900269_900269
  N/A
  N/A
  Control
  No previous psychiatric history
 
  161812776
  161880221
  67446
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
  N/A
  N/A
  Control
  No previous psychiatric history
 
  162434881
  162470885
  36005
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1056
  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
 
  161987342
  162003624
  16283
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split2119
  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
 
  161987342
  162003624
  16283
  Unknown
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44567
  N/A
  M
  Control
  NIMH Control (NIMH ID 29052)
 
  161759409
  161920654
  161246
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11193.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  161031076
  161082472
  51397
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11224.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  161031076
  161082472
  51397
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11433.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  162263499
  162278928
  15430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11472.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  161031076
  161081425
  50350
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11657.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  160940488
  161008398
  67911
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11722.s1
  9.8
  M
  Control (matched sibling)
  NA
  NA
  161031076
  161082472
  51397
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11883.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  161135180
  161138600
  3421
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11924.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  161031076
  161081425
  50350
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12006.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  161032271
  161082472
  50202
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12062.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  161031076
  161075039
  43964
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12101.s1
  5.1
  M
  Control (matched sibling)
  NA
  NA
  160934932
  161008398
  73467
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12175.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  162265183
  162276913
  11731
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12206.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  161031076
  161082472
  51397
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  161031076
  161082472
  51397
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12274.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  160940488
  161008398
  67911
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12295.s1
  20
  M
  Control (matched sibling)
  NA
  NA
  161031076
  161082472
  51397
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12345.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  161031076
  161082472
  51397
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12596.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  160968831
  161008398
  39568
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12646.s1
  16.5
  M
  Control (matched sibling)
  NA
  NA
  161354577
  161355617
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12682.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  161031076
  161081425
  50350
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12785.s1
  16.8
  F
  Control (matched sibling)
  NA
  NA
  160716938
  160778649
  61712
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12836.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  161031076
  161082472
  51397
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12871.s1
  17.4
  F
  Control (matched sibling)
  NA
  NA
  161031076
  161075039
  43964
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13053.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  161686778
  161708360
  21583
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13073.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  161031076
  161081425
  50350
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  163033940
  163036504
  2565
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13322.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  161031076
  161082472
  51397
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case14154_2530
 
 
 Unknown
 
 
 FSTL5
 
 engchuan_15_ASD_discovery_cases-case18088_301
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case18174_301
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6185_5
 
 
 Unknown
 
 
 FSTL5
 
 engchuan_15_ASD_discovery_cases-case8712_201
 
 
 Unknown
 
 
 
 
 gai_11_ASD_discovery_cases-AU1060301
 
 
 Inherited
 
 
 
 
 gai_11_ASD_replication_cases-AU084503
 
 
 Inherited
 
 
 FSTL5 (intronic)
 
 gai_11_ASD_replication_cases-AU084505
 
 
 Inherited
 
 
 FSTL5 (intronic)
 
 levy_11_ASD_discovery_cases-12341.p1
 
 
 Maternal
 Simplex
 Segregated
 FSTL5
 
 marshall_08_ASD_discovery_cases-SK0012-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 FSTL5
 
 prasad_12_ASD_discovery_cases-case161584L
 
 
 Unknown
 Unknown
 Unknown
 FSTL5
 
 prasad_12_ASD_discovery_cases-case60490L
 
 
 Unknown
 Unknown
 Unknown
 FSTL5
 
 sanders_11_ASD_discovery_cases-11096.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11110.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11148.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11193.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11298.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11390.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 FSTL5
 
 sanders_11_ASD_discovery_cases-11412.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11433.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11620.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11657.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11722.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11841.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12062.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12091.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12101.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12206.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12227.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12243.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12274.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12310.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12341.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FSTL5
 
 sanders_11_ASD_discovery_cases-12417.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12623.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12651.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12665.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12670.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12754.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12836.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13043.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13327.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB460767_1007853871
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB784802_1007846124
 
 
  Unknown
 
 
  FSTL5
 
engchuan_15_ASD_discovery_controls-controlB921878_0067943241
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900181_900181
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900269_900269
 
 
  Unknown
 
 
  FSTL5
 
engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split1056
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, RAPGEF2(dist=1706041),FSTL5(dist=301420)
 
kanduri_15_ASD_discovery_controls-control_split2119
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, RAPGEF2(dist=1706041),FSTL5(dist=301420)
 
poultney_13_ASD_discovery_controls-control05C44567
 
 
  Unknown
 
 
  FSTL5
 
sanders_11_ASD_discovery_controls-11193.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11224.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11433.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11472.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11657.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11722.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11883.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11924.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12006.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12062.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12101.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12175.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12206.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12274.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12295.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12345.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12596.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12646.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12682.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12785.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12836.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12871.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13053.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FSTL5
 
sanders_11_ASD_discovery_controls-13073.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13322.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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