A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225369



Internal ID22368517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70190261..70220589hg38UCSC Ensembl
Outerchr12:70584041..70614369hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3830329
hg1930329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1893n152
Supporting Variantsnssv14256341, nssv14256340
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225369
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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