A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220666



Internal ID22365300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22415909..22431905hg38UCSC Ensembl
Outerchr12:22568843..22584839hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3815997
hg1915997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255550, nssv14255551, nssv14255549, nssv14255546, nssv14255545, nssv14255544, nssv14255548, nssv14255547, nssv14255552
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)nsv3220666
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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