A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721512



Internal ID21747833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9940262..9940262hg38UCSC Ensembl
chr21:10418290..10418290hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237227, nssv17249699
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)nsv5721512
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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