A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1220n152



Internal ID22816923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1425610..1433783hg38UCSC Ensembl
chr11:1446840..1455013hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg388174
hg198174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228157, nsv3213524
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesBRSK2
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)dgv1220n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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