A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696967



Internal ID120633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37853961..37862554hg38UCSC Ensembl
chr14:38323166..38331759hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg388594
hg198594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501085
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696967
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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