A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5147n152



Internal ID22820850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1765950..1766087hg38UCSC Ensembl
chr20:1746596..1746733hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3213117, nsv3229546
SamplesHG00512, HG00513, HG00514
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)dgv5147n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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