A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7869n152



Internal ID22823572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41467751..41473400hg38UCSC Ensembl
chr6:41435489..41441138hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385650
hg195650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3194041, nsv3199148
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)dgv7869n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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