A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5330n152



Internal ID22821033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60087704..60087844hg38UCSC Ensembl
chr20:58662759..58662899hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216977, nsv3216946
SamplesHG00512, HG00731, HG00732, HG00733
Known Genes
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)dgv5330n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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