A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521975



Internal ID15102582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78516917..78522406hg38UCSC Ensembl
Innerchr17:76512999..76518488hg19UCSC Ensembl
Innerchr17:74024594..74030083hg18UCSC Ensembl
Innerchr17:74024594..74030083hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385490
hg195490
hg185490
hg175490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694742
Samples
Known GenesDNAH17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521975
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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