A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721843



Internal ID21748164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39457364..39457364hg38UCSC Ensembl
chr21:40829290..40829290hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381769
hg191769
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240937, nssv17235398
Samples
Known GenesSH3BGR
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)nsv5721843
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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