A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711367



Internal ID21737688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:29550453..29550453hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38132
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202507, nssv17227269
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)nsv5711367
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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