A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8213n152



Internal ID22823916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166585488..166586678hg38UCSC Ensembl
chr6:166998976..167000166hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381191
hg191191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3529608, nsv3193373
SamplesNA19238, NA19239, NA19240
Known GenesRPS6KA2
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)dgv8213n152
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