15q21.1CNV Type: Deletion-Duplication
Largest CNV size: 76740 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
84776
0
2
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
129644
5
1
6
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1053795
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
32107
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
76740
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
126783
1
1
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
75808
30
4
34
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
56802
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
307617
0
1
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
59403
1
2
3
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1053795
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
348825
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
119904
0
2
2
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
25980
1
0
1
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
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)
126783
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.
85569
22
0
22
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
56802
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
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
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brand_15_ASD_discovery_cases-case21
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 15 in this case. Duplication previously identified by aCGH as combined by another duplication (chr15:45101051-45296154; hg19).
44809849
44884783
74935
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case21
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 15 in this case. Duplication previously identified by aCGH as combined by another duplication (chr15:45101051-45296154; hg19).
44918070
45002846
84777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14181_2940
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47975329
48032131
56803
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20152_1637001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45273365
45391597
118233
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3392_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44905141
44947516
42376
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5332_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44662077
44726291
64215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8597_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45923845
46053489
129645
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8635_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47283350
47317874
34525
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case24512
13 yrs.
F
Intellectual disability
Behavioral problems: anxiety. Hypotonia, muscle weakness. Seizures. Nondysmorphic. Growth parameters: normal height and weight, mild macrocephaly. Family history: not specified.
Moderate-to-severe ID
45453786
46507581
1053796
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11352.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
45658923
45691030
32108
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11352.p1
NA
M
ASD
NA
NA
45628903
45705642
76740
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case138645L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
44921682
44940521
18840
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case159096L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
46388945
46515727
126783
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11083.p1
8.8
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
44937403
44944155
6753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11110.p1
15.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
48478383
48479112
730
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11122.p1
7.8
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11178.p1
9.3
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 119; verbal IQ, 103
44924145
44944155
20011
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11223.p1
12.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
44924145
44944155
20011
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11225.p1
11.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
44935013
44944155
9143
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11275.p1
14.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11328.p1
7.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11334.p1
14.6
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
47053825
47090619
36795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
45631817
45707625
75809
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11374.p1
8.8
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11394.p1
5.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
46944336
46974819
30484
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11396.p1
13.6
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
47053825
47096791
42967
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
44933318
44944155
10838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11501.p1
11.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11502.p1
16.1
F
Autism
NA
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
44933318
44944155
10838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11664.p1
7.3
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
45902910
45923957
21048
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
47915269
47919738
4470
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11979.p1
7.5
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
47053825
47102745
48921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
44933318
44944155
10838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
47915269
47919738
4470
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
47053825
47102745
48921
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
45588300
45616173
27874
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12314.p1
6.2
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
44933318
44944155
10838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
44929813
44944155
14343
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12366.p1
4
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
44937403
44949807
12405
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12405.p1
6.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
46553014
46588597
35584
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12478.p1
4.8
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
44933318
45003956
70639
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
47915269
47919738
4470
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
45587924
45616173
28250
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
47915269
47919738
4470
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12941.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
47915269
47919738
4470
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
44924145
44996434
72290
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
45585817
45616173
30357
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-14181-2940
N/A
M
ASD
N/A
N/A
47975329
48032131
56803
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control20058
N/A
M
Control
Control
44715717
45023333
307617
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900943_900943
N/A
N/A
Control
No previous psychiatric history
48271900
48331303
59404
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902660_902660
N/A
N/A
Control
No previous psychiatric history
49360716
49402073
41358
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_903010_902736
N/A
N/A
Control
No previous psychiatric history
48019147
48050409
31263
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1069
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
47613403
47644214
30812
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1274
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
45010022
45358846
348825
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control12967.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
45486610
45606514
119905
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14211.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
45040407
45099482
59076
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_controls-siblingPN400527
N/A
M
Control
Unaffected sibling of an ASD case
48142860
48168843
25984
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11051.s1
9.6
F
Control (matched sibling)
NA
NA
48348912
48355310
6399
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11064.s1
10
F
Control (matched sibling)
NA
NA
44937403
44944155
6753
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11115.s1
15.8
F
Control (matched sibling)
NA
NA
44937403
44944155
6753
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11144.s1
14
F
Control (matched sibling)
NA
NA
44936461
44944155
7695
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11215.s1
7.3
M
Control (matched sibling)
NA
NA
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11378.s1
11.2
M
Control (matched sibling)
NA
NA
47053825
47114866
61042
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11383.s1
5.5
M
Control (matched sibling)
NA
NA
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11390.s1
6.8
F
Control (matched sibling)
NA
NA
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
44935013
44944155
9143
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
47049190
47102745
53556
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
47914071
47919738
5668
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11458.s1
14.5
M
Control (matched sibling)
NA
NA
47053825
47088779
34955
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
47053825
47102745
48921
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11512.s1
4.3
F
Control (matched sibling)
NA
NA
47049190
47134759
85570
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
47053825
47134356
80532
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
45587324
45616173
28850
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
44764990
44767192
2203
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
49505162
49518355
13194
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
47915269
47919738
4470
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
45587324
45616173
28850
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brand_15_ASD_discovery_cases-case21
Maternal
Simplex
Unknown
RNU1-119P,SORD2P
brand_15_ASD_discovery_cases-case21
Maternal
Simplex
Unknown
RNU6-1108P,RNU6-1332P,RNU6-966P,TERB2
engchuan_15_ASD_discovery_cases-case14181_2940
Unknown
engchuan_15_ASD_discovery_cases-case20152_1637001
Unknown
RNU6-953P,SLC28A2,GATM
engchuan_15_ASD_discovery_cases-case3392_3
Unknown
RNU6-1108P
engchuan_15_ASD_discovery_cases-case5332_3
Unknown
B2M,SPG11,PATL2
engchuan_15_ASD_discovery_cases-case8597_201
Unknown
engchuan_15_ASD_discovery_cases-case8635_201
Unknown
SEMA6D
girirajan_12_ASD/DD/ID_discovery_cases-case24512
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
SNORA41B,DPPA5P2,MTND5P40,HMGN2P46,SQOR,SLC30A4,BLOC1S6
krumm_15_ASD_discovery_cases-case11352.p1
Illumina 1M
Paternal
Simplex
Segregated
SQOR
levy_11_ASD_discovery_cases-11352.p1
Paternal
Simplex
Segregated
SQOR
prasad_12_ASD_discovery_cases-case138645L
Unknown
Unknown
Unknown
MIR548A3
prasad_12_ASD_discovery_cases-case159096L
Unknown
Unknown
Unknown
DUT,FBN1
sanders_11_ASD_discovery_cases-11083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11110.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FBN1
sanders_11_ASD_discovery_cases-11122.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11178.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNU6-1108P
sanders_11_ASD_discovery_cases-11223.p1
Maternal
Simplex (trio)
NA
RNU6-1108P
sanders_11_ASD_discovery_cases-11225.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11275.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11328.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11352.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SQOR
sanders_11_ASD_discovery_cases-11374.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11394.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11396.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11499.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11501.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11502.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11664.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11680.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11979.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12020.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12052.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12066.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12102.p1
Paternal
Simplex (trio)
NA
BLOC1S6
sanders_11_ASD_discovery_cases-12314.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12334.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12366.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12405.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12478.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNU6-1332P,RNU6-966P,RNU1-78P,TERB2
sanders_11_ASD_discovery_cases-12582.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12638.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BLOC1S6
sanders_11_ASD_discovery_cases-12851.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12941.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13015.p1
Paternal
Simplex (quad-proband matched)
Segregated
RNU6-1108P,RNU6-1332P,RNU6-966P,TERB2
sanders_11_ASD_discovery_cases-13296.p1
Unknown
Simplex (quad-proband matched)
Not segregated
HMGN2P46,BLOC1S6
walker_13_ASD_discovery_cases-case8-14181-2940
Unknown
Simplex
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20058
Unknown
RNU1-119P,RNU6-1108P,RNU6-1332P,RNU6-966P,RNU1-78P,B2M,TRIM69,SORD,SORD2P,TERB2
engchuan_15_ASD_discovery_controls-controlHABC_900943_900943
Unknown
DUT,SLC12A1
engchuan_15_ASD_discovery_controls-controlHABC_902660_902660
Unknown
FAM227B,GALK2
engchuan_15_ASD_discovery_controls-controlHABC_903010_902736
Unknown
kanduri_15_ASD_discovery_controls-control_split1069
Unknown
SEMA6D (intronic)
kanduri_15_ASD_discovery_controls-control_split1274
Unknown
C15orf43,SORD,TRIM69
krumm_15_ASD_discovery_controls-control12967.s1
1M-Duov3
Maternal
SNORA41B,DPPA5P2,HMGN2P46,SLC30A4,BLOC1S6
krumm_15_ASD_discovery_controls-control14211.s1
Omni2.5-4v1
Paternal
SORD,DUOX2
leblond_19_ASD_discovery_controls-siblingPN400527
Unknown
MYEF2
sanders_11_ASD_discovery_controls-11051.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11064.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11115.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11144.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11215.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11378.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11383.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11390.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11399.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11422.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11435.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11436.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11445.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11458.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11475.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11512.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11568.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Unknown
Simplex (quad)
NA
BLOC1S6
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
TRIM69
sanders_11_ASD_discovery_controls-12041.s1
Maternal
Simplex (quad)
NA
FAM227B
sanders_11_ASD_discovery_controls-12052.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12972.s1
Unknown
Simplex (quad)
NA
BLOC1S6
No Animal Model Data Available