A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5267n152



Internal ID22820970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38510614..38510927hg38UCSC Ensembl
chr20:37139257..37139570hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3187433, nsv3181948
SamplesNA19238, NA19239, NA19240
Known GenesRALGAPB
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)dgv5267n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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