A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193110



Internal ID22343598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:109225881..109279238hg38UCSC Ensembl
Outerchr5:108561582..108614939hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3853358
hg1953358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272639, nssv14272638, nssv14272636, nssv14272634, nssv14272637, nssv14272635
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193110
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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