A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274691



Internal ID22198317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:86261910..86279415hg38UCSC Ensembl
Outerchr5:85557728..85575233hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3817506
hg1917506
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201898
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274691
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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