A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729938



Internal ID21756259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93144632..93144632hg38UCSC Ensembl
chr13:93796885..93796885hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238620
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)nsv5729938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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