A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273314



Internal ID22279839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115387657..115466655hg38UCSC Ensembl
Outerchr5:114723354..114802352hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3878999
hg1978999
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191109
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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