A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1112n152



Internal ID22816815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:130217359..130229504hg38UCSC Ensembl
chr10:132015623..132027768hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3812146
hg1912146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211029, nsv3226694
SamplesNA19240, HG00514
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)dgv1112n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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