A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219321



Internal ID22364375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170128838..170148997hg38UCSC Ensembl
Outerchr6:170444062..170464221hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383363
hg193363
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278989, nssv14278988, nssv14278987, nssv14278986
SamplesHG00512, NA19239, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219321
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