A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3122n152



Internal ID22818825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4199026..4218869hg38UCSC Ensembl
chr16:4249027..4268870hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819844
hg1919844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216220, nsv3228102
SamplesNA19240
Known GenesSRL
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)dgv3122n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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