A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210373



Internal ID22358302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4962718..4974001hg38UCSC Ensembl
Outerchr12:5071884..5083167hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3811284
hg1911284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256328, nssv14256327
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210373
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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