A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720539



Internal ID21746860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113806917..113806917hg38UCSC Ensembl
chr2:114564494..114564494hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244580, nssv17246783
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5720539
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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