A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212415



Internal ID22359669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:164325823..164331038hg38UCSC Ensembl
Outerchr5:163752829..163758044hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275268, nssv14275270, nssv14275272, nssv14275269, nssv14275271, nssv14275267
SamplesHG00512, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212415
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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