A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1431n152



Internal ID22817134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67156795..67169738hg38UCSC Ensembl
chr11:66924266..66937209hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3812944
hg1912944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214179, nsv3220318
SamplesNA19240
Known GenesKDM2A
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1431n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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