A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5783n152



Internal ID22821486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48542391..48542638hg38UCSC Ensembl
chr22:48938203..48938450hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3224243, nsv3214207
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAM19A5, LOC284933
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)dgv5783n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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