A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230274



Internal ID22371845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:89353499..89371888hg38UCSC Ensembl
Outerchr14:89819843..89838232hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3818390
hg1918390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258330, nssv14258329, nssv14258331, nssv14258328
SamplesHG00512, NA19239, NA19240, HG00514
Known GenesFOXN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230274
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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