A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17210531



Internal ID21658040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23256668..23256668hg38UCSC Ensembl
chr3:23298159..23298159hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690983
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)nssv17210531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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