A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5251n152



Internal ID22820954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34528007..34528340hg38UCSC Ensembl
chr20:33115812..33116145hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3522310, nsv3173034
SamplesNA19239, HG00732, NA19240, HG00733, HG00513
Known GenesDYNLRB1
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)dgv5251n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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