A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728346



Internal ID21754667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24261021..24261021hg38UCSC Ensembl
chr8:24118534..24118534hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383353
hg193353
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252508, nssv17249372
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)nsv5728346
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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