A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516691



Internal ID15443984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:51417214..51477734hg38UCSC Ensembl
Innerchr17:49494575..49555095hg19UCSC Ensembl
Innerchr17:46849574..46910094hg18UCSC Ensembl
Innerchr17:46849574..46910094hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3860521
hg1960521
hg1860521
hg1760521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv659558, nssv690888, nssv670190
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516691
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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