A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3273n152



Internal ID22818976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70519107..70519427hg38UCSC Ensembl
chr16:70553010..70553330hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3190264, nsv3522966
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCOG4
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)dgv3273n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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