A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726747



Internal ID21753068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50052834..50052834hg38UCSC Ensembl
chr15:50345031..50345031hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238147
Samples
Known GenesATP8B4
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)nsv5726747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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