A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254490



Internal ID22131092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120079954..120086737hg38UCSC Ensembl
Outerchr11:119950663..119957446hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386784
hg196784
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225163
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254490
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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