A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5644n152



Internal ID22821347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12810511..12810583hg38UCSC Ensembl
chr4:49168719..49168791hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3222626, nsv3541993
SamplesHG00512, NA19239, HG00732, NA19240, 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)dgv5644n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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