A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411575



Internal ID190882
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 StatusM
Merged Variants
Supporting Variantsnssv16930294
Samples
Known GenesUBE2E2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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