A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728220



Internal ID21754541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113669413..113669413hg38UCSC Ensembl
chr11:113540135..113540135hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239576
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)nsv5728220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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