A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221618



Internal ID22365941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:32843377..32892342hg38UCSC Ensembl
Outerchr5:32843483..32892448hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275763, nssv14275759, nssv14275761, nssv14275766, nssv14275765, nssv14275764, nssv14275760, nssv14275762
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221618
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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