A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254481



Internal ID22131076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:86556657..86582100hg38UCSC Ensembl
Outerchr11:86267699..86293142hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3825444
hg1925444
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218148
Supporting Variants
SamplesHG00513
Known GenesME3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254481
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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