11p14.3-p14.2CNV Type: Duplication
Largest CNV size: 4935706 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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
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
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
4910133
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
2490070
0
1
1
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
4858642
0
1
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
4935706
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
2490070
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.
195752
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
girirajan_13a_ASD_discovery_cases-12066.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
21828636
26738768
4910133
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12066.p1
NA
M
ASD
NA
NA
24267128
26757196
2490069
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1221-0
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: unknown. Seizures: unknown.
Developmental delay: unknown. Intellectual disability: unknown.
21893843
26752483
4858641
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
21824768
26760473
4935706
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
levy_11_ASD_discovery_controls-12066.s1
NA
F
Control
NA
NA
24267128
26757196
2490069
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
25909540
26105292
195753
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13a_ASD_discovery_cases-12066.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,RPL36AP40,MUC15,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,SLC5A12,GAS2,LUZP2,ANO3,ANO5
levy_11_ASD_discovery_cases-12066.p1
Maternal
Simplex
Not segregated
RPL36AP40,MUC15,SLC5A12,LUZP2,ANO3
sajan_13_ACC/CBLH/PMG_discovery_cases-case1221-0
qPCR
De novo
Unknown
Unknown
FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,RPL36AP40,MUC15,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,SLC5A12,GAS2,LUZP2,ANO3,ANO5
sanders_11_ASD_discovery_cases-12066.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,RPL36AP40,MUC15,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,SLC5A12,GAS2,LUZP2,ANO3,ANO5
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
levy_11_ASD_discovery_controls-12066.s1
Maternal
Simplex
NA
RPL36AP40,MUC15,SLC5A12,LUZP2,ANO3
sanders_11_ASD_discovery_controls-11469.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available