A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227295



Internal ID22369831
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254397, nssv14254398, nssv14254396
SamplesNA19239, NA19240, HG00514
Known GenesAPOA5, BUD13, ZNF259
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227295
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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