A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5359n152



Internal ID22821062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62048951..62053550hg38UCSC Ensembl
chr20:60624007..60628606hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3215782, nsv3215537
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTAF4
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)dgv5359n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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