A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254396



Internal ID22144466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:116770727..116809003hg38UCSC Ensembl
Outerchr11:116641443..116679719hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3838277
hg1938277
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227295
Supporting Variants
SamplesHG00514
Known GenesAPOA5, BUD13, ZNF259
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254396
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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