A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725137



Internal ID21751458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59538007..59538007hg38UCSC Ensembl
chr20:58113062..58113062hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg385849
hg195849
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252915
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)nsv5725137
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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