A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5299n152



Internal ID22821002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50609933..50610066hg38UCSC Ensembl
chr20:49226470..49226603hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228870, nsv3296241
SamplesNA19238, NA19240
Known GenesFAM65C
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)dgv5299n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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