A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371283



Internal ID22193669
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560343
Supporting Variants
SamplesHG00731
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)nssv14371283
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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