A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979732



Internal ID53867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179574695..179574746hg38UCSC Ensembl
chr5:179001696..179001747hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544378
Supporting Variants
Samples
Known GenesRUFY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979732
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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