A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725478



Internal ID21751799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39110413..39110413hg38UCSC Ensembl
chr13:39684550..39684550hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250711
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)nsv5725478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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