A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242659



Internal ID22339355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122901451..122903404hg38UCSC Ensembl
Outerchr12:123385998..123387951hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381419
hg191419
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256453, nssv14256450, nssv14256451, nssv14256457, nssv14256455, nssv14256452, nssv14256456, nssv14256449, nssv14256454
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)nsv3242659
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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