A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720400



Internal ID21746721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:20220154..20220154hg38UCSC Ensembl
chr10:20509083..20509083hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248803
Samples
Known GenesPLXDC2
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)nsv5720400
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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