11q23.2CNV Type: Deletion
Largest CNV size: 16454 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
53394
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
44954
1
0
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
16454
10
0
10
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
75730
0
2
2
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
55096
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
44336
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
18173
8
0
8
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
krumm_15_ASD_discovery_cases-case11409.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
113799239
113852633
53395
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam804Proband10735
N/A
N/A
ASD
Additional clinical profile info N/A
ID
115408818
115453771
44954
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11193.p1
7.5
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11291.p1
4.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
114631963
114648417
16455
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11557.p1
4.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11654.p1
8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 47
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11978.p1
9.1
F
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
114631963
114648417
16455
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12157.p1
14.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 93
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12349.p1
4.9
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12354.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12977.p1
8.2
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
114631963
114641981
10019
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
engchuan_15_ASD_discovery_controls-control110036013944_
N/A
N/A
Control
No previous psychiatric history
115391318
115453771
62454
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB744177_1007854062
N/A
N/A
Control
No previous psychiatric history
113936885
114012615
75731
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control13307.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13307. SRS score of 45.
113799239
113854335
55097
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control12184.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113808297
113852633
44337
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11079.s1
13.4
F
Control (matched sibling)
NA
NA
114880185
114898358
18174
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11083.s1
12.9
F
Control (matched sibling)
NA
NA
114631963
114648417
16455
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11251.s1
4.9
M
Control (matched sibling)
NA
NA
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11316.s1
13.3
F
Control (matched sibling)
NA
NA
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11459.s1
14.3
M
Control (matched sibling)
NA
NA
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11654.s1
6.3
F
Control (matched sibling)
NA
NA
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12623.s1
8.8
M
Control (matched sibling)
NA
NA
114631963
114641981
10019
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
114631963
114641981
10019
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_cases-case11409.p1
Illumina 1M
Paternal
Simplex
Segregated
USP28
nava_13_ASD_discovery_cases-Fam804Proband10735
Paternal
Unknown
Unknown
CADM1
sanders_11_ASD_discovery_cases-11193.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11291.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11557.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11654.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11978.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11986.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12157.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12349.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12354.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12977.p1
Maternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036013944_
Unknown
CADM1
engchuan_15_ASD_discovery_controls-controlB744177_1007854062
Unknown
HTR3B,HTR3A
krumm_13_ASD_discovery_controls-control13307.s1
Maternal
Simplex
USP28
krumm_15_ASD_discovery_controls-control12184.s1
Illumina 1MDuo
Paternal
USP28
sanders_11_ASD_discovery_controls-11079.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11083.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11251.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11316.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11459.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11654.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12623.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12977.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available