A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011876



Internal ID22073507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80555394..80558951hg38UCSC Ensembl
Outerchr17:80553674..80559389hg38UCSC Ensembl
Innerchr17:78529194..78532751hg19UCSC Ensembl
Outerchr17:78527474..78533189hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385716
hg195716
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155496
Supporting Variants
Samples
Known GenesRPTOR
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011876
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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