A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238271



Internal ID22374110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:33732161..33745213hg38UCSC Ensembl
Outerchr15:34024362..34037414hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg386093
hg196093
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258647, nssv14258645, nssv14258646, nssv14258644
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesRYR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238271
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer