A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5320n152



Internal ID22821023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57190356..57190429hg38UCSC Ensembl
chr20:55765412..55765485hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3542515, nsv3294898
SamplesHG00512, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesBMP7
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)dgv5320n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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