8q21.12CNV Type: Deletion
Largest CNV size: 325003 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
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
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
134589
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
138774
1
0
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
171206
1
0
1
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
325003
12
0
12
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
486729
3
1
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
14322
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
53345
3
0
3
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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-case14278_4010
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77699819
77778153
78335
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4399_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77528452
77663041
134590
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case12591.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
78666148
78804922
138775
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case14.2
N/A
N/A
PDD-NOS
No additional clinical information available
78819336
78990542
171207
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
79158304
79165692
7389
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
78442513
78495858
53346
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
78428593
78463700
35108
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
77630374
77746891
116518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
78606141
78611469
5329
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
78442513
78462321
19809
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12306.p1
8.4
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
78344629
78358198
13570
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12539.p1
7.9
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
78572689
78594443
21755
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12591.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
78642095
78909291
267197
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13089.p1
8.4
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
77487430
77812434
325005
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13146.p1
10.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
77804118
77910736
106619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
77920421
77926489
6069
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-controlB383984_1007874900
N/A
N/A
Control
No previous psychiatric history
77528452
77665303
136852
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB533652_1007873177
N/A
N/A
Control
No previous psychiatric history
79181356
79244239
62884
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
N/A
N/A
Control
No previous psychiatric history
79181356
79244239
62884
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900468_900468
N/A
N/A
Control
No previous psychiatric history
78777400
79264129
486730
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C28486
Control
79967655
79981976
14322
Unknown
Deletion
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
78344629
78358198
13570
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12240.s1
6.7
F
Control (matched sibling)
NA
NA
79158304
79165692
7389
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12617.s1
14.6
M
Control (matched sibling)
NA
NA
78442513
78495858
53346
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-case14278_4010
Unknown
engchuan_15_ASD_discovery_cases-case4399_1
Unknown
krumm_15_ASD_discovery_cases-case12591.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
THAP12P7,ZC2HC1A,IL7
lintas_17_ASD_discovery_cases-case14.2
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
sanders_11_ASD_discovery_cases-11080.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11592.p1
Unknown
Simplex (quad-proband matched)
Segregated
PKIA-AS1
sanders_11_ASD_discovery_cases-11704.p1
Maternal
Simplex (trio)
NA
PKIA-AS1
sanders_11_ASD_discovery_cases-11714.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11808.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11818.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PKIA-AS1
sanders_11_ASD_discovery_cases-12306.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12539.p1
Maternal
Simplex (trio)
NA
PKIA
sanders_11_ASD_discovery_cases-12591.p1
Maternal
Simplex (trio)
NA
THAP12P7,ZC2HC1A,IL7
sanders_11_ASD_discovery_cases-13089.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13146.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13183.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-controlB383984_1007874900
Unknown
engchuan_15_ASD_discovery_controls-controlB533652_1007873177
Unknown
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900468_900468
Unknown
IL7
nord_11_ASD_discovery_controls-04C28486
0 genes
sanders_11_ASD_discovery_controls-11622.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12240.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12617.s1
Unknown
Simplex (quad)
NA
PKIA-AS1
No Animal Model Data Available