A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9094n152



Internal ID22824797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19479757..19479834hg38UCSC Ensembl
chr8:19337268..19337345hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3175425, nsv3171434
SamplesHG00733, HG00514
Known GenesCSGALNACT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9094n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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