A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214221



Internal ID22360937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:81705229..81752388hg38UCSC Ensembl
Outerchr12:82099008..82146167hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3847160
hg1947160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1916n152
Supporting Variantsnssv14255788, nssv14255787, nssv14255786, nssv14255789
SamplesHG00512, HG00732, HG00733, HG00514
Known GenesPPFIA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214221
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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