A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5663n152



Internal ID22821366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17419494..17419565hg38UCSC Ensembl
chr22:17898541..17898612hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3298531, nsv3532928, nsv3299828
SamplesHG00512, NA19238, NA19239, NA19240, 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)dgv5663n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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