A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253640



Internal ID22321372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:122461914..122489801hg38UCSC Ensembl
Outerchr11:122332622..122360509hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3827888
hg1927888
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224283
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253640
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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