8q11.1CNV Type: Deletion-Duplication
Largest CNV size: 1031080 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
De novo rates and selection of large copy number variation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
35827
0
1
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
114953
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
760731
2
0
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
1031080
2
4
6
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
436676
1
1
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
117282
0
8
8
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
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
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
brand_15_ASD_discovery_cases-case2
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 8 in this case. Duplication was not previously observed by aCGH.
46621220
46657047
35828
GRCh38
Duplication
No
itsara_10_ASD_discovery_cases-HI4952
NA
NA
Autism
NA
NA
46164046
46278999
114954
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000476
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46031334
46662449
631116
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005059
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46031334
46792065
760732
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11304.p1
5.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 61; verbal IQ, 47
46193535
46278999
85465
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11371.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
45963932
46828229
864298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11444.p1
16.3
F
Aspergers
NA
Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
46605000
46623975
18976
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
46616792
46623975
7184
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12086.p1
14.5
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 108; verbal IQ, 131
45963932
46995011
1031080
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
45963932
46829997
866066
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
girirajan_13b_ASD_discovery_controls-11210113056
N/A
N/A
Control
Ethnicity: Caucasian
N/A
46039177
46475853
436677
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-6706105661
N/A
N/A
Control
Ethnicity: Hispanic
N/A
46610247
46914833
304587
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
46527736
46537365
9630
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
46616792
46623975
7184
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
46224514
46261652
37139
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11196.s1
10
M
Control (matched sibling)
NA
NA
46164046
46281328
117283
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11309.s1
13.6
F
Control (matched sibling)
NA
NA
46198867
46278999
80133
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
46616792
46623975
7184
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
46616792
46623975
7184
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11954.s1
6.8
F
Control (matched sibling)
NA
NA
46616792
46623975
7184
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brand_15_ASD_discovery_cases-case2
Maternal
Simplex
Unknown
ASNSP1
itsara_10_ASD_discovery_cases-HI4952
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000476
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSPA8P13,ASNSP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005059
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HSPA8P13,ASNSP4,ASNSP1
sanders_11_ASD_discovery_cases-11304.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11371.p1
Paternal
Simplex (trio)
NA
HSPA8P13,ASNSP4,MTND2P38,MTND1P7,ASNSP1,LINC00293,TRIM60P15
sanders_11_ASD_discovery_cases-11444.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ASNSP1
sanders_11_ASD_discovery_cases-11473.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ASNSP1
sanders_11_ASD_discovery_cases-12086.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HSPA8P13,ASNSP4,MTND2P38,MTND1P7,RNU6-656P,MTCYBP20,MTND6P20,ASNSP1,LINC00293,MAPK6P4,TRIM60P15
sanders_11_ASD_discovery_cases-12189.p1
Paternal
Simplex (quad-proband matched)
Segregated
HSPA8P13,ASNSP4,MTND2P38,MTND1P7,ASNSP1,LINC00293,TRIM60P15
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_controls-11210113056
Unknown
girirajan_13b_ASD_discovery_controls-6706105661
Unknown
ASNSP4,MTND2P38,MTND1P7,RNU6-656P,MTCYBP20,MTND6P20,ASNSP1,LINC00293,TRIM60P15
sanders_11_ASD_discovery_controls-11041.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11071.s1
Both parents
Simplex (quad)
NA
ASNSP1
sanders_11_ASD_discovery_controls-11108.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11196.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11309.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11473.s1
Maternal
Simplex (quad)
NA
ASNSP1
sanders_11_ASD_discovery_controls-11569.s1
Paternal
Simplex (quad)
NA
ASNSP1
sanders_11_ASD_discovery_controls-11954.s1
Maternal
Simplex (quad)
NA
ASNSP1
No Animal Model Data Available