A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721299



Internal ID21747620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24214042..24214042hg38UCSC Ensembl
chr20:24194678..24194678hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247265, nssv17246293
Samples
Known GenesFLJ33581
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)nsv5721299
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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