A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685874



Internal ID21712195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27538272..27538272hg38UCSC Ensembl
chr2:27761139..27761139hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208031, nssv17198891
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)nsv5685874
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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