A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5326n152



Internal ID22821029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59148389..59148724hg38UCSC Ensembl
chr20:57723444..57723779hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3520654, nsv3178201
SamplesNA19238, NA19239, NA19240
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)dgv5326n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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