A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192275



Internal ID22342884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:186134170..186215153hg38UCSC Ensembl
Outerchr2:186998897..187079880hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3880984
hg1980984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4922n152
Supporting Variantsnssv14264719
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192275
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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