A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976709



Internal ID51860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172112116..172112167hg38UCSC Ensembl
chr5:171539120..171539171hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555305
Supporting Variants
Samples
Known GenesSTK10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976709
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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