A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5506n152



Internal ID22821209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32771849..32771911hg38UCSC Ensembl
chr21:34144160..34144222hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3297024, nsv3291773
SamplesHG00733, HG00514
Known GenesPAXBP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5506n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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