A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5812n152



Internal ID22821515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49922890..49922949hg38UCSC Ensembl
chr22:50316538..50316597hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229600, nsv3217885
SamplesNA19239, NA19240
Known GenesCRELD2
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5812n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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