A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221354



Internal ID22365771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26157457..26186020hg38UCSC Ensembl
Outerchr18:23737421..23765984hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3828564
hg1928564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262804, nssv14262803
SamplesNA19238, HG00513
Known GenesPSMA8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221354
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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