A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966056



Internal ID44690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55951382..55951433hg38UCSC Ensembl
chr5:55247210..55247261hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38932
hg19932
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559484
Supporting Variants
Samples
Known GenesIL6ST
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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