A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721330



Internal ID21747651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30983533..30983533hg38UCSC Ensembl
chr13:31557670..31557670hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246517
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)nsv5721330
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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