A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979779



Internal ID53900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179835006..179835006hg38UCSC Ensembl
chr5:179262006..179262006hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544434
Supporting Variants
Samples
Known GenesSQSTM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000664


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer