8p11.1CNV Type: Deletion-Duplication
Largest CNV size: 78275 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
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
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
291923
5
0
5
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
148385
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)
2736
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
618722
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
78275
1
12
13
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
191555
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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.
79256
1
19
20
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
191555
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
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
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
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
gai_11_ASD_discovery_cases-AU1031303
Autism
43545847
43837769
291923
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1282301
Autism
43545847
43837769
291923
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1282302
Autism
43592905
43837769
244865
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1482302
Autism
43592905
43837769
244865
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1607308
Autism
43592905
43837769
244865
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU1043301
Autism
43689385
43837769
148385
Unknown
Deletion
No
poultney_13_ASD_discovery_cases-case03HI2537A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0934302; NDAR ID NDAR_INVMY062BPQ)
43315889
43318624
2736
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-078
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
43333739
43952460
618722
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11494.p1
17.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11645.p1
8.7
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
43918067
43976738
58672
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11942.p1
10.3
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12025.p1
6.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 96; verbal IQ, 69
43929235
43949162
19928
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
43313753
43320144
6392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
43936548
43976738
40191
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12989.p1
7.1
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
43918067
43976738
58672
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13093.p1
13.9
M
Autism
NA
Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
43898463
43976738
78276
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case317
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
43306777
43498331
191555
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case318
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
43306777
43498331
191555
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
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11634.s1
9.9
M
Control (matched sibling)
NA
NA
43918067
43976738
58672
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
43918067
43976738
58672
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
43937428
43976738
39311
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
43929235
43976738
47504
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11792.s1
8.6
M
Control (matched sibling)
NA
NA
43897482
43976738
79257
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11872.s1
6
F
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
43949162
43976738
27577
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12347.s1
7.3
F
Control (matched sibling)
NA
NA
43397281
43418499
21219
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12923.s1
5.8
M
Control (matched sibling)
NA
NA
43897482
43976738
79257
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13005.s1
6.8
F
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
43898463
43976738
78276
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gai_11_ASD_discovery_cases-AU1031303
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1282301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1282302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1482302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1607308
Inherited
0 genes
gai_11_ASD_replication_cases-AU1043301
Inherited
0 genes
poultney_13_ASD_discovery_cases-case03HI2537A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
POTEA
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-078
Not tested by qPCR
Unknown
Unknown
Unknown
SNX18P27,CYP4F44P,POTEA
sanders_11_ASD_discovery_cases-11494.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11645.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11942.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11989.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12025.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12279.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12355.p1
Paternal
Simplex (trio)
NA
POTEA
sanders_11_ASD_discovery_cases-12975.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12989.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12997.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13016.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13093.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case317
Unknown
Unknown
Unknown
POTEA
yin_16_ASD_discovery_cases-case318
Unknown
Unknown
Unknown
POTEA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11472.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11634.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11657.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11666.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11691.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11715.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11792.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11872.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11935.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11948.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11979.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11984.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11989.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12231.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12347.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12867.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12923.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12997.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13005.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13175.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available