A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8227n152



Internal ID22823930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167940316..167940571hg38UCSC Ensembl
chr6:168340996..168341251hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3289012, nsv3285892
SamplesNA19240, HG00514
Known GenesMLLT4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8227n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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