A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258331



Internal ID22321053
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230274
Supporting Variants
SamplesNA19240
Known GenesFOXN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258331
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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