A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520355



Internal ID15100962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47390917..48130866hg38UCSC Ensembl
Innerchr16:47424828..48164777hg19UCSC Ensembl
Innerchr16:45982329..46722278hg18UCSC Ensembl
Innerchr16:45982329..46722278hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38739950
hg19739950
hg18739950
hg17739950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697369
Samples
Known GenesABCC12, ITFG1, PHKB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520355
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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