A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518326



Internal ID15445619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7784864..7815177hg38UCSC Ensembl
Innerchr17:7688182..7718495hg19UCSC Ensembl
Innerchr17:7628907..7659220hg18UCSC Ensembl
Innerchr17:7628907..7659220hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3830314
hg1930314
hg1830314
hg1730314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695756
Samples
Known GenesDNAH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518326
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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