A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696385



Internal ID15433037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4296025..4310710hg38UCSC Ensembl
Innerchr17:4199320..4214005hg19UCSC Ensembl
Innerchr17:4146069..4160754hg18UCSC Ensembl
Innerchr17:4146069..4160754hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3814686
hg1914686
hg1814686
hg1714686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515940
Supporting Variants
Samples
Known GenesUBE2G1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696385
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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