A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518285



Internal ID15098892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33277438..33284152hg38UCSC Ensembl
Innerchr2:33502505..33509219hg19UCSC Ensembl
Innerchr2:33356009..33362723hg18UCSC Ensembl
Innerchr2:33414156..33420870hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg386715
hg196715
hg186715
hg176715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695717
Samples
Known GenesLTBP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518285
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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