A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16931078



Internal ID21467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23871956..23872974hg38UCSC Ensembl
chr3:23913447..23914465hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450156
Supporting Variants
Samples
Known GenesUBE2E1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16931078
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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