A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691744



Internal ID115410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68374976..68493661hg38UCSC Ensembl
chr13:68949108..69067793hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38118686
hg19118686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503330
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691744
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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