A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520257



Internal ID15447550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74196576..74287219hg38UCSC Ensembl
Innerchr12:74590356..74680999hg19UCSC Ensembl
Innerchr12:72876623..72967266hg18UCSC Ensembl
Innerchr12:72876623..72967266hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3890644
hg1990644
hg1890644
hg1790644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697311
Samples
Known GenesLOC100507377
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520257
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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