A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5960n152



Internal ID22821663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46736115..46812174hg38UCSC Ensembl
chr3:46777605..46853664hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3876060
hg1976060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3192808, nsv3201728, nsv3199303, nsv3195190
SamplesNA19238, NA19239, NA19240
Known GenesPRSS45, PRSS46
MethodMerging
Optical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
Illumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5960n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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