A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4290n152



Internal ID22819993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46389363..46389421hg38UCSC Ensembl
chr19:46892620..46892678hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3297268, nsv3300718
SamplesHG00733, HG00514
Known GenesPPP5C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4290n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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