A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204560



Internal ID22353393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152591838..152598733hg38UCSC Ensembl
Outerchr3:152309627..152316522hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg386896
hg196896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270854, nssv14270853, nssv14270859, nssv14270855, nssv14270857, nssv14270861, nssv14270858, nssv14270860, nssv14270856
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)nsv3204560
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