A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707492



Internal ID131158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67301538..67305888hg38UCSC Ensembl
chr16:67335441..67339791hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384351
hg194351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520179
Supporting Variants
Samples
Known GenesKCTD19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707492
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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