A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7352n152



Internal ID22823055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59574062..59574119hg38UCSC Ensembl
chr5:58869888..58869945hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3281015, nsv3281716, nsv3282873
SamplesNA19240, HG00733, HG00514
Known GenesPDE4D
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7352n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer