A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9166n152



Internal ID22824869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51404345..51404587hg38UCSC Ensembl
chr8:52316905..52317147hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3527233, nsv3283083
SamplesNA19238, NA19240
Known GenesPXDNL
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)dgv9166n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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