HELP     Sign In

3q11.2-q12.1CNV Type: Duplication


Largest CNV size: 4325670 bp

Statistics Box:
Number of Reports: 2



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
HELP
Copyright © 2017 MindSpec, Inc.