A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728848



Internal ID21755169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79025067..79025067hg38UCSC Ensembl
chr13:79599202..79599202hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244447, nssv17239605
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)nsv5728848
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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