A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715021



Internal ID138687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80685133..80685200hg38UCSC Ensembl
chr17:78658933..78659000hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514622
Supporting Variants
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715021
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.183422


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