A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720045



Internal ID21746366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:93827489..93827489hg38UCSC Ensembl
chr3:93546333..93546333hg19UCSC Ensembl
Cytoband3q11.1
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 Variantsnssv17251684
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)nsv5720045
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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