A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516319



Internal ID15443612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:69606448..69618435hg38UCSC Ensembl
Innerchr17:67602589..67614576hg19UCSC Ensembl
Innerchr17:65114184..65126171hg18UCSC Ensembl
Innerchr17:65114184..65126171hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3811988
hg1911988
hg1811988
hg1711988
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv661492, nssv667544, nssv703098, nssv657585, nssv683017
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516319
Frequency
Sample Size2026
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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