A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226961



Internal ID22369593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:23611459..23626291hg38UCSC Ensembl
Outerchr6:23611687..23626519hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278351, nssv14278352, nssv14278355, nssv14278354, nssv14278356, nssv14278353
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226961
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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