A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721565



Internal ID21747886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107694759..107694759hg38UCSC Ensembl
chr8:108706987..108706987hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252312
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)nsv5721565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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