A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273310



Internal ID22279794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:89300398..89313807hg38UCSC Ensembl
Outerchr5:88596215..88609624hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3813410
hg1913410
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191758
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273310
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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