A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518615



Internal ID8412890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74707240..74838523hg38UCSC Ensembl
Innerchr2:74934367..75065650hg19UCSC Ensembl
Innerchr2:74787875..74919158hg18UCSC Ensembl
Innerchr2:74846022..74977305hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38131284
hg19131284
hg18131284
hg17131284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696062
Samples
Known GenesHK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518615
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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