A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322241



Internal ID22140857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55959229..55959229hg38UCSC Ensembl
chr5:55255057..55255057hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563919
Supporting Variants
SamplesHG00513
Known GenesIL6ST
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322241
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer