A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702236



Internal ID15438888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80966057..80971337hg38UCSC Ensembl
Innerchr17:78939857..78945137hg19UCSC Ensembl
Innerchr17:76554452..76559732hg18UCSC Ensembl
Innerchr17:76554452..76559732hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385281
hg195281
hg185281
hg175281
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526008
Supporting Variants
Samples
Known GenesRPTOR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702236
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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