A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727457



Internal ID21753778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:67736440..67736440hg38UCSC Ensembl
chr15:68028778..68028778hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249320
Samples
Known GenesMAP2K5
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)nsv5727457
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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