A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4106n152



Internal ID22819809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6163179..6163480hg38UCSC Ensembl
chr19:6163190..6163491hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3180118, nsv3176892
SamplesHG00733, HG00514
Known GenesACSBG2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4106n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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