A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721588



Internal ID21747909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84368306..84368306hg38UCSC Ensembl
chr1:84833989..84833989hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249130, nssv17248604
Samples
Known GenesUOX
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)nsv5721588
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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