A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715020



Internal ID138686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80661347..81015738hg38UCSC Ensembl
chr17:78635147..78989538hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38354392
hg19354392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527427
Supporting Variants
Samples
Known GenesCHMP6, RPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715020
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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