A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727254



Internal ID21753575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111223490..111223490hg38UCSC Ensembl
chr11:111094215..111094215hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252788
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)nsv5727254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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