A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519007



Internal ID8413282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74866341..74871056hg38UCSC Ensembl
Innerchr2:75093468..75098183hg19UCSC Ensembl
Innerchr2:74946976..74951691hg18UCSC Ensembl
Innerchr2:75005123..75009838hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg384716
hg194716
hg184716
hg174716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696476
Samples
Known GenesHK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519007
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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