A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5558n152



Internal ID22821261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43470237..43470327hg38UCSC Ensembl
chr21:44890117..44890207hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3217534, nsv3216018
SamplesHG00513, HG00514
Known GenesLINC00313
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)dgv5558n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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