A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240100



Internal ID22374603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:19776154..19790918hg38UCSC Ensembl
Outerchr12:19929088..19943852hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256811, nssv14256810, nssv14256806, nssv14256807, nssv14256808, nssv14256812, nssv14256809
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240100
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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