A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254399



Internal ID22270963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120191504..120204066hg38UCSC Ensembl
Outerchr11:120062212..120074774hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3812563
hg1912563
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215969
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254399
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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