A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705731



Internal ID129397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22075699..22080695hg38UCSC Ensembl
chr16:22087020..22092016hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384997
hg194997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515771
Supporting Variants
Samples
Known GenesC16orf52
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705731
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.136959


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