A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14445013



Internal ID22240922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39405888..39405888hg38UCSC Ensembl
chr14:39875092..39875092hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382968
hg192968
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558117
Supporting Variants
SamplesHG00733
Known GenesFBXO33
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1HS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14445013
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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