A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686979



Internal ID21713300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58614090..58614090hg38UCSC Ensembl
chr2:58841225..58841225hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202351
Samples
Known GenesLINC01122
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)nsv5686979
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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