A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197643



Internal ID22347496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32758128..32773351hg38UCSC Ensembl
Outerchr3:32799620..32814843hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3815224
hg1915224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270388, nssv14270390, nssv14270387, nssv14270393, nssv14270392, nssv14270391, nssv14270389, nssv14270395, nssv14270394
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCNOT10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197643
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