A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518317



Internal ID15445610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:50823782..50874894hg38UCSC Ensembl
Innerchr16:50857693..50908805hg19UCSC Ensembl
Innerchr16:49415194..49466306hg18UCSC Ensembl
Innerchr16:49415194..49466306hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3851113
hg1951113
hg1851113
hg1751113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695748
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518317
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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