A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723483



Internal ID21749804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:81414524..81414524hg38UCSC Ensembl
chr9:84029439..84029439hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245551
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)nsv5723483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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