3q11.2-q12.1CNV Type: Duplication
Largest CNV size: 4325670 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
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
No Minor Reports
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
4325670
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
83243
0
1
1
Controls
No Control Data Available
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)
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
Controls
No Control Data Available
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-14204.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
95369074
99694744
4325671
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1572-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
98565439
98648681
83243
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13a_ASD_discovery_cases-14204.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
HNRNPKP4,MIR8060,RNU6-1094P,MTRNR2L12,RPL18AP8,RCC2P5,CDV3P1,OR5BM1P,OR5AC1,OR5AC2,OR5AC4P,POU5F1P7,OR5H1,OR5H15,OR5H5P,OR5H3P,OR5H6,OR5H2,OR5H8,OR5K4,OR5K3,UBFD1P1,OR5K2,RPL38P4,GPR15,WWP1P1,PDLIM1P4,RNU6-26P,RNU6-1263P,LINC00973,ACTG1P13,RIOX2,GABRR3,OR5H14,OR5H4P,OR5H7P,OR5K1,CLDND1,CPOX,ST3GAL6-AS1,ST3GAL6,MTHFD2P1,ARL6,CRYBG3,DCBLD2,COL8A1,EPHA6
sajan_13_ACC/CBLH/PMG_discovery_cases-case1572-0
qPCR
Unknown
Unknown
Unknown
CPOX
Controls
No Control Data Available
No Animal Model Data Available