A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226016



Internal ID22368964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:153944393..153954501hg38UCSC Ensembl
Outerchr5:153323953..153334061hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg384255
hg194255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276906, nssv14276912, nssv14276911, nssv14276909, nssv14276905, nssv14276908, nssv14276907, nssv14276913, nssv14276910
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226016
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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