A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708784



Internal ID132450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79092381..79092432hg38UCSC Ensembl
chr16:79126278..79126329hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg381369
hg191369
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561178
Supporting Variants
Samples
Known GenesWWOX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708784
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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