A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683671



Internal ID21709992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218976174..218976174hg38UCSC Ensembl
chr2:219840896..219840896hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221293, nssv17208758
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)nsv5683671
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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