A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576164



Internal ID16016887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80768726..80871552hg38UCSC Ensembl
Innerchr17:78742526..78845352hg19UCSC Ensembl
Innerchr17:76357121..76459947hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38102827
hg19102827
hg18102827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv876995
Samples
Known GenesRPTOR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576164
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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