A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729522



Internal ID21755843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206995977..206995977hg38UCSC Ensembl
chr2:207860701..207860701hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382828
hg192828
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250362, nssv17242962
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)nsv5729522
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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