A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5643n152



Internal ID22821346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12698688..12699025hg38UCSC Ensembl
chrUn_gl000235:6958..7295hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3188746, nsv3519907, nsv3186896
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)dgv5643n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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