A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5950n152



Internal ID22821653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42796864..42799318hg38UCSC Ensembl
chr3:42838356..42840810hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382455
hg192455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3526134, nsv3280705
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHIGD1A
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)dgv5950n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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