A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729473



Internal ID21755794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60634139..60634139hg38UCSC Ensembl
chr15:60926338..60926338hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240361, nssv17244433
Samples
Known GenesRORA
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)nsv5729473
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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