A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16930294



Internal ID20941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23254494..23254545hg38UCSC Ensembl
chr3:23295985..23296036hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411575
Supporting Variants
Samples
Known GenesUBE2E2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16930294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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