20p11.1-q11.1CNV Type: Deletion-Duplication
Largest CNV size: 1925945 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
1925945
3
15
18
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.
2068767
0
15
15
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-11152.p1
6.7
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
26208140
28113909
1905769
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
26227758
28043606
1815848
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11312.p1
10
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
26235048
28113909
1878861
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11346.p1
11
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
26208140
28043606
1835466
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
26237012
28043606
1806594
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
26208140
28113909
1905769
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
26187964
28113909
1925945
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11583.p1
13
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
26208140
28113909
1905769
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
26235048
28113909
1878861
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
26208140
28113909
1905769
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11792.p1
10.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
26205350
28043606
1838256
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11860.p1
6
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
26204565
28059305
1854740
NCBI36
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
26204565
28113909
1909344
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11995.p1
5.4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
26208140
28113909
1905769
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-12008.p1
7.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
26208140
28118678
1910538
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
26208140
28113909
1905769
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-12356.p1
5.8
M
Aspergers
NA
Full-scale IQ, 113; non-verbal IQ, 104; verbal IQ, 123
26227758
28118678
1890920
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-12871.p1
16.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ, 59
26204565
28043606
1839041
NCBI36
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-11009.s1
7.6
M
Control (matched sibling)
NA
NA
26208140
28113909
1905769
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11195.s1
11.1
F
Control (matched sibling)
NA
NA
26187964
28113909
1925945
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
26208140
28043606
1835466
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11368.s1
8.1
F
Control (matched sibling)
NA
NA
26208140
28043606
1835466
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11453.s1
8.8
F
Control (matched sibling)
NA
NA
26227758
28043606
1815848
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11498.s1
5.9
M
Control (matched sibling)
NA
NA
26208140
28113909
1905769
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11665.s1
12.9
M
Control (matched sibling)
NA
NA
26204565
28113909
1909344
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
26208140
28043606
1835466
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
26208140
28043606
1835466
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11933.s1
6.8
M
Control (matched sibling)
NA
NA
26235048
28113909
1878861
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
26227758
28043606
1815848
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11990.s1
13.4
M
Control (matched sibling)
NA
NA
26227758
28043606
1815848
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
26204565
28043606
1839041
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
26241985
28051629
1809644
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-13010.s1
5.8
M
Control (matched sibling)
NA
NA
26190911
28259678
2068767
NCBI36
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-11152.p1
Paternal
Simplex (quad-proband matched)
Segregated
0 genes
sanders_11_ASD_discovery_cases-11276.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
0 genes
sanders_11_ASD_discovery_cases-11312.p1
Maternal
Simplex (quad-proband matched)
Segregated
0 genes
sanders_11_ASD_discovery_cases-11346.p1
Unknown
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11350.p1
Both parents
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11447.p1
Unknown
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11491.p1
Both parents
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11583.p1
Unknown
Simplex (trio)
NA
0 genes
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11665.p1
Both parents
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11792.p1
Both parents
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11860.p1
Both parents
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11989.p1
Both parents
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11995.p1
Maternal
Simplex (trio)
NA
0 genes
sanders_11_ASD_discovery_cases-12008.p1
Both parents
Simplex (trio)
NA
0 genes
sanders_11_ASD_discovery_cases-12266.p1
Both parents
Simplex (trio)
NA
0 genes
sanders_11_ASD_discovery_cases-12356.p1
Paternal
Simplex (quad-proband matched)
Segregated
0 genes
sanders_11_ASD_discovery_cases-12871.p1
Both parents
Simplex (quad-proband matched)
Not 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-11009.s1
Unknown
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11195.s1
Unknown
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11304.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11368.s1
Maternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11453.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11498.s1
Maternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11665.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11714.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11860.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11933.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11986.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11990.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-12867.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-12939.s1
Both parents
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-13010.s1
Paternal
Simplex (quad)
NA
FRG1B
No Animal Model Data Available