A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233736



Internal ID22372832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50638216..50645420hg38UCSC Ensembl
Outerchr22:51076644..51083848hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383472
hg193472
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269443, nssv14269446, nssv14269449, nssv14269445, nssv14269447, nssv14269448, nssv14269450, nssv14269444, nssv14269442
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)nsv3233736
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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