1p11.2-p11.1CNV Type: Duplication
Largest CNV size: 313805 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
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.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
289716
0
2
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
313805
0
20
20
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.
313974
0
22
22
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
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
sajan_13_ACC/CBLH/PMG_discovery_cases-case1327-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
121429348
121719125
289778
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-276
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
121544405
121719125
174721
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11063.p1
9.3
M
Aspergers
NA
Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
121429348
121719125
289778
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
121620551
121743215
122665
GRCh38
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
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12206.p1
17.1
M
Aspergers
NA
Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12231.p1
8.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12320.p1
8.5
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12523.p1
6.1
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
121559216
121743215
184000
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12946.p1
10.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 106
121429348
121743215
313868
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12955.p1
13.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 66; verbal IQ, 67
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12977.p1
8.2
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13012.p1
5.8
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 60; verbal IQ, 21
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
121620551
121743215
122665
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-11329.s1
6.9
M
Control (matched sibling)
NA
NA
121429348
121743384
314037
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11634.s1
9.9
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11644.s1
14.2
F
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11653.s1
5
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11694.s1
6.6
F
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12859.s1
6.6
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12955.s1
9.5
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12975.s1
7.3
F
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12976.s1
8.5
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13035.s1
12.8
F
Control (matched sibling)
NA
NA
121429348
121743215
313868
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13080.s1
6.8
F
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
121620551
121743215
122665
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sajan_13_ACC/CBLH/PMG_discovery_cases-case1327-0
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01691,EMBP1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-276
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01691,EMBP1
sanders_11_ASD_discovery_cases-11063.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC01691,EMBP1
sanders_11_ASD_discovery_cases-11333.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11644.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11665.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12020.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12119.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12198.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12206.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12231.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12320.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12523.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01691,EMBP1
sanders_11_ASD_discovery_cases-12892.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12921.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12946.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
LINC01691,EMBP1
sanders_11_ASD_discovery_cases-12955.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12957.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12975.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12977.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13012.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13175.p1
Both parents
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11329.s1
Paternal
Simplex (quad)
NA
LINC01691,EMBP1
sanders_11_ASD_discovery_controls-11634.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11644.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11653.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11657.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11666.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11694.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11714.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12044.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12060.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12434.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12859.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12867.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12955.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12975.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12976.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12997.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13035.s1
Paternal
Simplex (quad)
NA
LINC01691,EMBP1
sanders_11_ASD_discovery_controls-13041.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13080.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13175.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13195.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available