A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716461



Internal ID21742782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:97403599..97403599hg38UCSC Ensembl
chr14:97869936..97869936hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248729, nssv17247406
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)nsv5716461
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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