A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518615



Internal ID6015862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74934367..75065650hg19UCSC Ensembl
Innerchr2:74787875..74919158hg18UCSC Ensembl
Innerchr2:74846022..74977305hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv696062
Samples
Known GenesHK2
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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