A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729712



Internal ID21756033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35531993..35531993hg38UCSC Ensembl
chr14:36001199..36001199hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248482
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)nsv5729712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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