A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699211



Internal ID21725532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:29083616..29083616hg38UCSC 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 Variantsnssv17202502, nssv17222893
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)nsv5699211
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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