A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516172



Internal ID15443465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13273495..13330887hg38UCSC Ensembl
Innerchr17:13176812..13234204hg19UCSC Ensembl
Innerchr17:13117537..13174929hg18UCSC Ensembl
Innerchr17:13117537..13174929hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3857393
hg1957393
hg1857393
hg1757393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674974, nssv666624
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516172
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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