A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730883



Internal ID21757204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47695162..47695162hg38UCSC Ensembl
chr14:48164365..48164365hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246261, nssv17241307
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)nsv5730883
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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