A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560343



Internal ID22429140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39405890..39405890hg38UCSC Ensembl
chr14:39875094..39875094hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382949
hg192949
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371282, nssv14371284, nssv14371283, nssv14371281
SamplesHG00512, HG00731, HG00733, HG00513
Known GenesFBXO33
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560343
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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