A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521463



Internal ID15448756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99738688..100204229hg38UCSC Ensembl
Innerchr5:99074392..99539933hg19UCSC Ensembl
Innerchr5:99102291..99567832hg18UCSC Ensembl
Innerchr5:99102291..99567832hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38465542
hg19465542
hg18465542
hg17465542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698073
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521463
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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