A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715621



Internal ID21741942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189959897..189959897hg38UCSC Ensembl
chr3:189677686..189677686hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241292
Samples
Known GenesLEPREL1
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)nsv5715621
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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