A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698967



Internal ID122633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80090402..80096253hg38UCSC Ensembl
chr14:80556745..80562596hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg385852
hg195852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496359
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698967
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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