A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714741



Internal ID21741062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58336848..58336848hg38UCSC Ensembl
chr10:60096608..60096608hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238606, nssv17235916
Samples
Known GenesUBE2D1
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)nsv5714741
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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