A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719494



Internal ID21745815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140143285..140143285hg38UCSC Ensembl
chrX:139225444..139225444hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242525, nssv17239910
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)nsv5719494
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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