A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706275



Internal ID129941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27434661..27436025hg38UCSC Ensembl
chr16:27445982..27447346hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381365
hg191365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520549
Supporting Variants
Samples
Known GenesIL21R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706275
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001562


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