A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717280



Internal ID21743601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53801321..53801321hg38UCSC Ensembl
chr20:52417860..52417860hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248410, nssv17252614
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)nsv5717280
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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