A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518749



Internal ID15446042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4619872..4629402hg38UCSC Ensembl
Innerchr17:4523167..4532697hg19UCSC Ensembl
Innerchr17:4469916..4479446hg18UCSC Ensembl
Innerchr17:4469916..4479446hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg389531
hg199531
hg189531
hg179531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696198
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518749
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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