A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707821



Internal ID131487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48759604..48763406hg38UCSC Ensembl
chr16:48793515..48797317hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383803
hg193803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523689
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707821
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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