A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234573



Internal ID22373073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1533019..1574710hg38UCSC Ensembl
Outerchr12:1642185..1683876hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381169
hg191169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1680n152
Supporting Variantsnssv14255629, nssv14255633, nssv14255627, nssv14255626, nssv14255628, nssv14255625, nssv14255630, nssv14255632, nssv14255631
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFBXL14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234573
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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