A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718707



Internal ID21745028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52539289..52539289hg38UCSC Ensembl
chr10:54299049..54299049hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247049
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)nsv5718707
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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