A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273376



Internal ID22118657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:96623097..96631765hg38UCSC Ensembl
Outerchr5:95958801..95967469hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg388669
hg198669
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194758
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273376
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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