A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728840



Internal ID21755161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78760990..78760990hg38UCSC Ensembl
chr13:79335125..79335125hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242332, nssv17247311
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)nsv5728840
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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