A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694820



Internal ID118486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48316853..48444869hg38UCSC Ensembl
chr14:48786056..48914072hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38128017
hg19128017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512147
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694820
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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