A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8216n152



Internal ID22823919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166783810..166784641hg38UCSC Ensembl
chr6:167197298..167198129hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38832
hg19832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3283097, nsv3285799
SamplesNA19240, HG00514
Known GenesRPS6KA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8216n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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