A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719266



Internal ID21745587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:80261113..80261113hg38UCSC Ensembl
chr15:80553455..80553455hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252862, nssv17242331
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)nsv5719266
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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