A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396139



Internal ID22310493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26601646..26601646hg38UCSC Ensembl
chr22:26997610..26997610hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523765
Supporting Variants
SamplesNA19240
Known GenesCRYBB1
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)nssv14396139
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