A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699908



Internal ID21726229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3261772..3261772hg38UCSC Ensembl
chr20:3242418..3242418hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222073, nssv17202780
Samples
Known GenesC20orf194
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)nsv5699908
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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