A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681873



Internal ID15071839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30735271..30761984hg38UCSC Ensembl
Innerchr2:30958137..30984850hg19UCSC Ensembl
Innerchr2:30811641..30838354hg18UCSC Ensembl
Innerchr2:30869788..30896501hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3826714
hg1926714
hg1826714
hg1726714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520269
Supporting Variants
Samples
Known GenesCAPN13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681873
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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