A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7883n152



Internal ID22823586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46734416..46734467hg38UCSC Ensembl
chr6:46702153..46702204hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3204247, nsv3202403
SamplesNA19238, NA19239, NA19240
Known GenesPLA2G7
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)dgv7883n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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