A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5196n152



Internal ID22820899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19679502..19679577hg38UCSC Ensembl
chr20:19660146..19660221hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3298234, nsv3535020
SamplesNA19239, NA19240
Known GenesSLC24A3
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)dgv5196n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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