A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724181



Internal ID21750502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43131498..43131498hg38UCSC Ensembl
chr15:43423696..43423696hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237861
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)nsv5724181
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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