A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727123



Internal ID21753444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14021795..14021795hg38UCSC Ensembl
chr5:14021904..14021904hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236768
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)nsv5727123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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