A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724776



Internal ID21751097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70605593..70605593hg38UCSC Ensembl
chr9:73220509..73220509hg19UCSC Ensembl
Cytoband9q21.12
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 Variantsnssv17237349
Samples
Known GenesTRPM3
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)nsv5724776
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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