A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228028



Internal ID22370340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14343907..14358314hg38UCSC Ensembl
Outerchr5:14344016..14358423hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381741
hg191741
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275722, nssv14275715, nssv14275718, nssv14275717, nssv14275719, nssv14275716, nssv14275720, nssv14275721
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTRIO
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228028
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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