A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254381



Internal ID22187126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93283617..93290235hg38UCSC Ensembl
Outerchr11:93016783..93023401hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg386619
hg196619
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221693
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254381
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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