A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220791



Internal ID21668300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23254494..23254494hg38UCSC Ensembl
chr3:23295985..23295985hg19UCSC 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 Variantsnsv5692064
Supporting Variants
Samples
Known GenesUBE2E2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17220791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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