A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724959



Internal ID21751280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89236507..89236507hg38UCSC Ensembl
chr14:89702851..89702851hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38903
hg19903
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236648, nssv17238780
Samples
Known GenesFOXN3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5724959
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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