A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248765



Internal ID21696274
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 StatusS
Merged Variantsnsv5728359
Supporting Variants
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)nssv17248765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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