10p11.1-q11.1CNV Type: Deletion-Duplication
Largest CNV size: 3014026 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
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-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
3014026
1
4
5
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
3067706
0
6
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
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
sanders_11_ASD_discovery_cases-11043.p1
8.4
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 106
38850572
41864598
3014026
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
39128835
41708736
2579901
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-12286.p1
4.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
39128835
41727512
2598677
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-12690.p1
11.6
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
39128835
41727512
2598677
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-12786.p1
7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
39164331
41727512
2563181
NCBI36
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
sanders_11_ASD_discovery_controls-11644.s1
14.2
F
Control (matched sibling)
NA
NA
38850572
41727512
2876940
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-12299.s1
9.7
F
Control (matched sibling)
NA
NA
39147030
41727512
2580482
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-12440.s1
5.1
F
Control (matched sibling)
NA
NA
39141132
41727512
2586380
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-12610.s1
8.8
F
Control (matched sibling)
NA
NA
39128835
41727512
2598677
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
38795698
42130877
3335180
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13015.s1
7.1
F
Control (matched sibling)
NA
NA
38521638
42102824
3581187
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_cases-11043.p1
Paternal
Simplex (quad-proband matched)
Segregated
0 genes
sanders_11_ASD_discovery_cases-12010.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
0 genes
sanders_11_ASD_discovery_cases-12286.p1
Maternal
Simplex (trio)
NA
0 genes
sanders_11_ASD_discovery_cases-12690.p1
Paternal
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-12786.p1
Unknown
Simplex (quad-proband matched)
Segregated
0 genes
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11644.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-12299.s1
Paternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-12440.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-12610.s1
Maternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-12656.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13015.s1
Unknown
Simplex (quad)
NA
ABCD1P2,PABPC1P12,ACTR3BP5,CHEK2P5,SLC9B1P3
No Animal Model Data Available