8q13.1CNV Type: Deletion
Largest CNV size: 3277 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
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
613638
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
346
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
27201
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
3277
4
0
4
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
79039
0
1
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
346
1
0
1
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
9182
7
0
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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-case13231_2573
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66612614
66765622
153009
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14072_1250
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65065465
65679103
613639
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2291_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65408946
65730569
321624
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case13048.p1
N/A
F
ASD
ASD proband from SSC quad family 13048. SRS score of 90.
Full-scale IQ (FSIQ) score of 35.
66878573
66878919
347
GRCh38
Deletion
No (not tested)
poultney_13_ASD_discovery_cases-case00HI1555A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU048103; NDAR ID NDAR_INVDV175TEL)
66828652
66840117
11466
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0555A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU044004; NDAR ID NDAR_INVMU758BXY)
66874154
66901354
27201
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11214.p1
15.5
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
66770743
66774020
3278
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11409.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
65180080
65182003
1924
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11810.p1
7.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
65180080
65182003
1924
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
65180080
65182003
1924
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-controlB529705_1007840923
N/A
N/A
Control
No previous psychiatric history
66839926
66918965
79040
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control13048.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13048. SRS score of 40.
66878573
66878919
347
GRCh38
Deletion
No (not tested)
sanders_11_ASD_discovery_controls-11450.s1
12.5
F
Control (matched sibling)
NA
NA
65180080
65182003
1924
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
65180080
65182003
1924
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
66713908
66723090
9183
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
65180080
65182003
1924
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11913.s1
5.9
F
Control (matched sibling)
NA
NA
66515268
66519476
4209
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
65180080
65182003
1924
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12063.s1
11.8
F
Control (matched sibling)
NA
NA
65180080
65182003
1924
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13231_2573
Unknown
VCPIP1,C8orf44,MYBL1,SGK3
engchuan_15_ASD_discovery_cases-case14072_1250
Unknown
RPL31P41,PPIAP86,LINC00251,ARMC1,LINC01299,MTFR1
engchuan_15_ASD_discovery_cases-case2291_1
Unknown
ARMC1,LINC01299,MTFR1,PDE7A
krumm_13_ASD_discovery_cases-case13048.p1
Paternal
Simplex
Not segregated
MCMDC2
poultney_13_ASD_discovery_cases-case00HI1555A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SGK3
poultney_13_ASD_discovery_cases-case98HI0555A
qPCR
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MCMDC2
sanders_11_ASD_discovery_cases-11214.p1
Unknown
Simplex (quad-proband matched)
Segregated
SGK3
sanders_11_ASD_discovery_cases-11409.p1
Maternal
Simplex (trio)
NA
LINC00251
sanders_11_ASD_discovery_cases-11810.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00251
sanders_11_ASD_discovery_cases-12301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00251
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB529705_1007840923
Unknown
MCMDC2,SGK3
krumm_13_ASD_discovery_controls-control13048.s1
Paternal
Simplex
MCMDC2
sanders_11_ASD_discovery_controls-11450.s1
Paternal
Simplex (quad)
NA
LINC00251
sanders_11_ASD_discovery_controls-11549.s1
Both parents
Simplex (quad)
NA
LINC00251
sanders_11_ASD_discovery_controls-11794.s1
Unknown
Simplex (quad)
NA
SGK3
sanders_11_ASD_discovery_controls-11810.s1
Maternal
Simplex (quad)
NA
LINC00251
sanders_11_ASD_discovery_controls-11913.s1
Unknown
Simplex (quad)
NA
VXN
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
LINC00251
sanders_11_ASD_discovery_controls-12063.s1
Maternal
Simplex (quad)
NA
LINC00251
No Animal Model Data Available