A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155496



Internal ID22086001
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4011876
Samples
Known GenesRPTOR
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155496
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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