A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv914062



Internal ID16208018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91863839..92094035hg38UCSC Ensembl
Innerchr2:92051865..92282061hg19UCSC Ensembl
Innerchr2:91415592..91645788hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38230197
hg19230197
hg18230197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582475
Supporting Variants
Samples
Known GenesACTR3BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv914062
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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