8q24.11CNV Type: Deletion
Largest CNV size: 21483 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
No Major Reports
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
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
60467
1
1
2
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
24275
0
1
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
21483
10
0
10
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
28479
0
1
1
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
38532
0
1
1
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
24275
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.
18234
4
0
4
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
28479
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
larson_17_ASD_discovery_controls
N/A
N/A
N/A
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
engchuan_15_ASD_discovery_cases-case3268_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117131057
117162479
31423
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6238_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117907540
117968007
60468
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case14
N/A
M
ASD and psychosis
Male, borderline IQ, onset early 20s, diagnosis of depression with psychosis, family history depression. CNV not reported in DGV.
Borderline IQ
117074275
117098550
24276
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
117595969
117604793
8825
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
116771675
116789909
18235
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
116786773
116789909
3137
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
116961569
116962914
1346
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
116771675
116793158
21484
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12602.p1
9.8
M
Aspergers
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 106
116961569
116962914
1346
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12788.p1
12.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
116771675
116793158
21484
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
116771675
116793158
21484
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
116771675
116789909
18235
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
116771675
116789909
18235
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case326
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
117158172
117186650
28479
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-controlHABC_900405_900405
N/A
N/A
Control
No previous psychiatric history
116828983
116867515
38533
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12063.s1
11.8
F
Control (matched sibling)
NA
NA
116771675
116789909
18235
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12457.s1
5.6
M
Control (matched sibling)
NA
NA
116961569
116962914
1346
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12602.s1
6.8
F
Control (matched sibling)
NA
NA
116961569
116962914
1346
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12646.s1
16.5
M
Control (matched sibling)
NA
NA
116961569
116962914
1346
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-case3268_4
Unknown
SLC30A8
engchuan_15_ASD_discovery_cases-case6238_3
Unknown
EXT1
larson_17_ASD_discovery_cases-case14
Unknown
Unknown
SLC30A8
sanders_11_ASD_discovery_cases-11110.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11158.p1
Unknown
Simplex (quad-proband matched)
Segregated
UTP23
sanders_11_ASD_discovery_cases-11704.p1
Paternal
Simplex (trio)
NA
UTP23
sanders_11_ASD_discovery_cases-12010.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
SLC30A8
sanders_11_ASD_discovery_cases-12102.p1
Unknown
Simplex (trio)
NA
UTP23
sanders_11_ASD_discovery_cases-12602.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC30A8
sanders_11_ASD_discovery_cases-12788.p1
Unknown
Simplex (quad-proband matched)
Not segregated
UTP23
sanders_11_ASD_discovery_cases-12964.p1
Unknown
Simplex (quad-proband matched)
Not segregated
UTP23
sanders_11_ASD_discovery_cases-13065.p1
Unknown
Simplex (trio)
NA
UTP23
sanders_11_ASD_discovery_cases-13195.p1
Unknown
Simplex (quad-proband matched)
Not segregated
UTP23
yin_16_ASD_discovery_cases-case326
Unknown
Unknown
Unknown
RN7SL826P,SLC30A8
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900405_900405
Unknown
RAD21,UTP23
sanders_11_ASD_discovery_controls-12063.s1
Unknown
Simplex (quad)
NA
UTP23
sanders_11_ASD_discovery_controls-12457.s1
Maternal
Simplex (quad)
NA
SLC30A8
sanders_11_ASD_discovery_controls-12602.s1
Maternal
Simplex (quad)
NA
SLC30A8
sanders_11_ASD_discovery_controls-12646.s1
Paternal
Simplex (quad)
NA
SLC30A8
No Animal Model Data Available