A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679662



Internal ID21705983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142465441..142465441hg38UCSC Ensembl
chr2:143223010..143223010hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223085, nssv17206047
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)nsv5679662
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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