A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5141n152



Internal ID22820844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:242152350..242163592hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3811243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3210051, nsv3204708
SamplesNA19240, HG00733
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)dgv5141n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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