A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727611



Internal ID21753932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128271218..128271218hg38UCSC Ensembl
chr11:128141113..128141113hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg386013
hg196013
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240753, nssv17244937
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)nsv5727611
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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