A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705903



Internal ID129569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53426293..53440236hg38UCSC Ensembl
chr16:53460205..53474148hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3813944
hg1913944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519586
Supporting Variants
Samples
Known GenesRBL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705903
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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