A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720874



Internal ID21747195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22768049..22768049hg38UCSC Ensembl
chr8:22625562..22625562hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242281, nssv17247378
Samples
Known GenesPEBP4
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)nsv5720874
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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