A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223680



Internal ID22367372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11343759..11362383hg38UCSC Ensembl
Outerchr11:11365306..11383930hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3818625
hg1918625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253850
SamplesNA19239
Known GenesCSNK2A3, GALNT18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223680
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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