A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396891



Internal ID22324021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48476457..48476457hg38UCSC Ensembl
chr22:48872269..48872269hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558616
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14396891
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