A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727154



Internal ID21753475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:21344145..21344145hg38UCSC Ensembl
chr10:21633074..21633074hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250543, nssv17248831
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)nsv5727154
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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