A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696658



Internal ID120324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49644294..49729211hg38UCSC Ensembl
chr14:50111012..50195929hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3884918
hg1984918
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505832
Supporting Variants
Samples
Known GenesKLHDC1, POLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696658
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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