A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701447



Internal ID15091413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58183234..58196772hg38UCSC Ensembl
Innerchr17:56260595..56274133hg19UCSC Ensembl
Innerchr17:53615594..53629132hg18UCSC Ensembl
Innerchr17:53615594..53629132hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3813539
hg1913539
hg1813539
hg1713539
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517229
Supporting Variants
Samples
Known GenesEPX
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701447
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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