A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694181



Internal ID15430833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41003158..41014352hg38UCSC Ensembl
Innerchr2:41230298..41241492hg19UCSC Ensembl
Innerchr2:41083802..41094996hg18UCSC Ensembl
Innerchr2:41141949..41153143hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3811195
hg1911195
hg1811195
hg1711195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515841
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694181
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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