A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728025



Internal ID21754346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21441533..21441533hg38UCSC Ensembl
chr20:21422171..21422171hg19UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237201, nssv17248596
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)nsv5728025
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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