A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693939



Internal ID117605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22902628..22903463hg38UCSC Ensembl
chr14:23371837..23372672hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504350
Supporting Variants
Samples
Known GenesRBM23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693939
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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