A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213439



Internal ID22360389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:10259567..10288372hg38UCSC Ensembl
Outerchr11:10281114..10309919hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3828806
hg1928806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254433, nssv14254434
SamplesHG00512, HG00733
Known GenesSBF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213439
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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