A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717096



Internal ID140762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31791613..31908545hg38UCSC Ensembl
chr18:29371576..29488508hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38116933
hg19116933
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519357
Supporting Variants
Samples
Known GenesTRAPPC8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717096
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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