A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576153



Internal ID16363562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80743948..80748624hg38UCSC Ensembl
Innerchr17:78717748..78722424hg19UCSC Ensembl
Innerchr17:76332343..76337019hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384677
hg194677
hg184677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv876966
Samples
Known GenesRPTOR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576153
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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