A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706479



Internal ID21732800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:28590495..28590495hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228124, nssv17202491
Samples
Known Genes
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)nsv5706479
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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