A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729247



Internal ID21755568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:29108005..29108005hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg383101
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241340, nssv17238936
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)nsv5729247
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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