A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720294



Internal ID21746615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42875070..42875070hg38UCSC Ensembl
chr20:41503710..41503710hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg385410
hg195410
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239909
Samples
Known GenesPTPRT
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)nsv5720294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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