A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696662



Internal ID120328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49682987..49682987hg38UCSC Ensembl
chr14:50149705..50149705hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536477
Supporting Variants
Samples
Known GenesPOLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696662
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002812


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