A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728359



Internal ID21754680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63461534..63461534hg38UCSC Ensembl
chr11:63229006..63229006hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243347, nssv17248765
Samples
Known GenesHRASLS5, MIR3680-1, MIR3680-2
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)nsv5728359
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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