A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576167



Internal ID16363576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80921353..80977377hg38UCSC Ensembl
Innerchr17:78895153..78951177hg19UCSC Ensembl
Innerchr17:76509748..76565772hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3856025
hg1956025
hg1856025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150003
Samples1788485381_A
Known GenesRPTOR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576167
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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