A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4367n152



Internal ID22820070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55530438..55530791hg38UCSC Ensembl
chr19:56041805..56042158hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3218209, nsv3296057
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSBK2
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)dgv4367n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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