A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213132



Internal ID22360171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80592579..80603407hg38UCSC Ensembl
Outerchr5:79888398..79899226hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38863
hg19863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276238, nssv14276234, nssv14276230, nssv14276231, nssv14276236, nssv14276237, nssv14276235, nssv14276233, nssv14276232
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)nsv3213132
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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