A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254433



Internal ID22117248
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213439
Supporting Variants
SamplesHG00512
Known GenesSBF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254433
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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