A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698677



Internal ID15088643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80552727..80584611hg38UCSC Ensembl
Innerchr17:78526527..78558411hg19UCSC Ensembl
Innerchr17:76141122..76173006hg18UCSC Ensembl
Innerchr17:76141122..76173006hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3831885
hg1931885
hg1831885
hg1731885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523005
Supporting Variants
Samples
Known GenesRPTOR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698677
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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