6p21.31CNV Type: Deletion-Duplication
Largest CNV size: 192121 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
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.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
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
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
387
1
0
1
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
8736
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
151343
1
2
3
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
8450
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
229794
2
11
13
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
2000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
126422
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
164000
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
192121
0
2
2
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)
130418
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
199153
2
1
3
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
125484
1
8
9
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
163777
1
8
9
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
7579
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
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
84593
1
5
6
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
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)
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)
199153
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.
67324
1
3
4
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent 4x180K or 8x60K)
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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)
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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_discovery_cases-caseSSC09872
N/A
M
ASD
Case from SSC_phase1 cohort
35215944
35216331
388
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11220
NA
F
ASD
NA
NA
35787085
35795821
8737
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1020_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35530321
35597645
67325
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6321_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34329185
34365154
35970
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case9759_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34754882
34906225
151344
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case13153.p1
N/A
M
ASD
ASD proband from SSC quad family 13153. SRS score of 76.
Full-scale IQ (FSIQ) score of 75.
35991658
36000108
8451
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11033.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35575834
35597404
21571
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11042.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33999661
34092099
92439
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11407.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35786997
35797288
10292
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11437.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35795730
35819494
23765
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12184.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35575834
35597404
21571
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12852.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35781110
35797298
16189
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12944.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35777840
35781211
3372
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13013.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
35512811
35597404
84594
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13136.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35575834
35597404
21571
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13153.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35991658
36000108
8451
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13210.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35786997
35797288
10292
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13210.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
34606554
34836348
229795
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14220.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
34821652
34880376
58725
GRCh38
Duplication
Yes
lesca_12_EP_discovery_cases-case033a
NA
M
Epilepsy + autistic features
Phenotype: LKS-woESES. Seizure Characteristics: Nocturnal. Autistic features: Yes. ADHD features: No. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes.
35135858
35137800
1943
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11049.p1
NA
M
ASD
NA
NA
34298795
34425216
126422
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam562Proband7779
N/A
M
ASD
Additional clinical profile info N/A
ID
33931092
34095574
164483
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1020_4
NA
M
ASD
NA
NA
35530321
35597645
67325
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5437_3
NA
M
Autism
Language delay, diffuse pontine glioma
Average IQ
36440905
36633025
192121
Unknown
Duplication
Yes
poultney_13_ASD_discovery_cases-case05HI4559A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1575302; NDAR ID NDAR_INVAZ827NFA)
34757542
34887959
130418
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case115810L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
33604713
33633473
28761
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82058L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
33792429
33799324
6896
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case93919L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
36440694
36639846
199153
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
35530321
35597645
67325
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
34300330
34425814
125485
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
35530321
35597645
67325
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
35530321
35597645
67325
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
35521076
35597645
76570
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
35509255
35597645
88391
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
35530321
35597645
67325
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
35991094
36001991
10898
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
33807614
33830813
23200
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB456613_1007854343
N/A
N/A
Control
No previous psychiatric history
34754882
34918659
163778
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB614872_1007874936
N/A
N/A
Control
No previous psychiatric history
34873553
34918659
45107
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB852766_1007854725
N/A
N/A
Control
No previous psychiatric history
35530321
35597645
67325
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB886290_1007844972
N/A
N/A
Control
No previous psychiatric history
35530321
35597645
67325
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB954474_1007874921
N/A
N/A
Control
No previous psychiatric history
34754882
34905881
151000
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900374_900374
N/A
N/A
Control
No previous psychiatric history
35530321
35597645
67325
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901005_901005
N/A
N/A
Control
No previous psychiatric history
34179772
34227089
47318
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902487_902487
N/A
N/A
Control
No previous psychiatric history
34727002
34829464
102463
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
N/A
N/A
Control
No previous psychiatric history
33755513
33794465
38953
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1792
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
36245261
36252839
7579
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control11033.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
35575834
35597404
21571
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12184.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
35575834
35597404
21571
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12572.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
35786997
35797288
10292
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13071.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
35786997
35797298
10302
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13136.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
35512811
35597404
84594
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14249.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
35575834
35597404
21571
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
35530321
35597645
67325
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
35530321
35597645
67325
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
35530321
35597645
67325
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13222.s1
13.5
F
Control (matched sibling)
NA
NA
33807614
33829232
21619
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC09872
PCR or SNP data validation
Paternal
SCUBE3
celestino-soper_11_ASD_discovery_cases-11220
aCGH (Agilent 4x180K or 8x60K)
Inherited
Simplex
NA
CLPS,CLPSL1
engchuan_15_ASD_discovery_cases-case1020_4
Unknown
FKBP5
engchuan_15_ASD_discovery_cases-case6321_3
Unknown
NUDT3,RPS10-NUDT3
engchuan_15_ASD_discovery_cases-case9759_201
Unknown
RNY3P15,SNRPC,TAF11,UHRF1BP1,ANKS1A
krumm_13_ASD_discovery_cases-case13153.p1
Paternal
Simplex
Segregated
SLC26A8
krumm_15_ASD_discovery_cases-case11033.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
FKBP5
krumm_15_ASD_discovery_cases-case11042.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MIR1275,GRM4
krumm_15_ASD_discovery_cases-case11407.p1
Illumina 1MDuo
De novo
Simplex
Segregated
CLPS,CLPSL1
krumm_15_ASD_discovery_cases-case11437.p1
Illumina 1M
Maternal
Simplex
Segregated
CLPS,LHFPL5
krumm_15_ASD_discovery_cases-case12184.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
FKBP5
krumm_15_ASD_discovery_cases-case12852.p1
Illumina 1MDuo
De novo
Simplex
Segregated
CLPS,CLPSL1
krumm_15_ASD_discovery_cases-case12944.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CLPSL2,CLPSL1
krumm_15_ASD_discovery_cases-case13013.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TULP1,FKBP5
krumm_15_ASD_discovery_cases-case13136.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
FKBP5
krumm_15_ASD_discovery_cases-case13153.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SLC26A8
krumm_15_ASD_discovery_cases-case13210.p1
1M-Duov3
De novo
Simplex
Segregated
CLPS,CLPSL1
krumm_15_ASD_discovery_cases-case13210.p1
1M-Duov3
De novo
Simplex
Segregated
RPL7P25,RN7SL200P,SNRPC,UHRF1BP1,C6orf106
krumm_15_ASD_discovery_cases-case14220.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RNY3P15,TAF11,UHRF1BP1
lesca_12_EP_discovery_cases-case033a
Unknown
Unknown
Unknown
TCP11
levy_11_ASD_discovery_cases-11049.p1
Paternal
Simplex
Segregated
RPS10,NUDT3,RPS10-NUDT3
nava_13_ASD_discovery_cases-Fam562Proband7779
Maternal
Simplex
Unknown
MIR1275,GRM4
pinto_10_ASD_discovery_cases-case1020_4
Illumina550
paternal
NA
NA
FKBP5
pinto_10_ASD_discovery_cases-case5437_3
qPCR, Agilent 1M
De novo
Multiplex (MZ twin with ASD)
Not segregated
ETV7, PXT1, KCTD20, STK38
poultney_13_ASD_discovery_cases-case05HI4559A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNY3P15,SNRPC,TAF11,UHRF1BP1
prasad_12_ASD_discovery_cases-case115810L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case82058L
Unknown
Unknown
Unknown
IP6K3
prasad_12_ASD_discovery_cases-case93919L
Unknown
Unknown
Unknown
STK38,PXT1,KCTD20,ETV7
sanders_11_ASD_discovery_cases-11033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FKBP5
sanders_11_ASD_discovery_cases-11049.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS10,NUDT3,RPS10-NUDT3
sanders_11_ASD_discovery_cases-12184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FKBP5
sanders_11_ASD_discovery_cases-12221.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
FKBP5
sanders_11_ASD_discovery_cases-12266.p1
Maternal
Simplex (trio)
NA
FKBP5
sanders_11_ASD_discovery_cases-13013.p1
Paternal
Simplex (trio)
NA
TULP1,FKBP5
sanders_11_ASD_discovery_cases-13136.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FKBP5
sanders_11_ASD_discovery_cases-13153.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DPRXP2,SLC26A8
sanders_11_ASD_discovery_cases-13222.p1
Paternal
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-controlB456613_1007854343
Unknown
RNY3P15,SNRPC,TAF11,UHRF1BP1,ANKS1A
engchuan_15_ASD_discovery_controls-controlB614872_1007874936
Unknown
RNY3P15,TAF11,UHRF1BP1,ANKS1A
engchuan_15_ASD_discovery_controls-controlB852766_1007854725
Unknown
FKBP5
engchuan_15_ASD_discovery_controls-controlB886290_1007844972
Unknown
FKBP5
engchuan_15_ASD_discovery_controls-controlB954474_1007874921
Unknown
RNY3P15,SNRPC,TAF11,UHRF1BP1,ANKS1A
engchuan_15_ASD_discovery_controls-controlHABC_900374_900374
Unknown
FKBP5
engchuan_15_ASD_discovery_controls-controlHABC_901005_901005
Unknown
KRT18P9,CYCSP55
engchuan_15_ASD_discovery_controls-controlHABC_902487_902487
Unknown
SNRPC,UHRF1BP1
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
Unknown
LEMD2
kanduri_15_ASD_discovery_controls-control_split1792
Unknown
PNPLA1 (intronic)
krumm_15_ASD_discovery_controls-control11033.s1
Illumina 1M
Paternal
FKBP5
krumm_15_ASD_discovery_controls-control12184.s1
Illumina 1MDuo
Paternal
FKBP5
krumm_15_ASD_discovery_controls-control12572.s1
Illumina 1MDuo
De novo
CLPS,CLPSL1
krumm_15_ASD_discovery_controls-control13071.s1
1M-Duov3
Maternal
CLPS,CLPSL1
krumm_15_ASD_discovery_controls-control13136.s1
Illumina 1MDuo
Maternal
TULP1,FKBP5
krumm_15_ASD_discovery_controls-control14249.s1
Omni2.5-4v1
Paternal
FKBP5
sanders_11_ASD_discovery_controls-11033.s1
Paternal
Simplex (quad)
NA
FKBP5
sanders_11_ASD_discovery_controls-12184.s1
Paternal
Simplex (quad)
NA
FKBP5
sanders_11_ASD_discovery_controls-13136.s1
Maternal
Simplex (quad)
NA
FKBP5
sanders_11_ASD_discovery_controls-13222.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available