14q32.31-q32.32CNV Type: Duplication
Largest CNV size: 522112 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
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
1051477
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
522112
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
brandler_18_ASD_replication_cases-caseAU3125301
N/A
M
ASD
Case from MSSNG cohort
101905099
102956575
1051477
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case12158
NA
NA
ASD
NA
NA
101957366
102479478
522112
Unknown
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
brandler_18_ASD_replication_cases-caseAU3125301
No validation step reported
De novo
RN7SL472P,RNU6-244P,ANKRD9,MIR4309,RN7SL546P,RPL23AP11,RNU6-1316P,WDR20,ZNF839,CINP,LINC02323,AMN,PPP2R5C,DYNC1H1,HSP90AA1,MOK,TECPR2,RCOR1,TRAF3,CDC42BPB
rosenfeld_10_ASD_discovery_cases-case12158
FISH
Maternal
Unknown
Unknown
TECPR2,ANKRD9,RCOR1,TRAF3,AMN,CDC42BPB
Controls
No Control Data Available
No Animal Model Data Available