A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14463502



Internal ID22228929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113747373..113747373hg38UCSC Ensembl
chr6:114068575..114068575hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520578
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14463502
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