A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv914061



Internal ID16208017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91863839..92081336hg38UCSC Ensembl
Innerchr2:92051865..92269362hg19UCSC Ensembl
Innerchr2:91415592..91633089hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38217498
hg19217498
hg18217498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582474
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)nssv914061
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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