A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193781



Internal ID22344185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:84600312..84618750hg38UCSC Ensembl
Outerchr6:85310030..85328468hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3818439
hg1918439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275537, nssv14275539, nssv14275533, nssv14275534, nssv14275535, nssv14275538, nssv14275536, nssv14275531, nssv14275532
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193781
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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