A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722534



Internal ID21748855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65486045..65486045hg38UCSC Ensembl
chr3:65471720..65471720hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245968
Samples
Known GenesMAGI1
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)nsv5722534
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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