A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4922n152



Internal ID22820625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186134170..186215153hg38UCSC Ensembl
chr2:186998897..187079880hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3880984
hg1980984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3192275, nsv3209916
SamplesHG00514
Known Genes
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4922n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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