A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245202



Internal ID22376083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121022318..121057084hg38UCSC Ensembl
Outerchr12:121460121..121494887hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38973
hg19973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256426, nssv14256424, nssv14256423, nssv14256427, nssv14256425, nssv14256420, nssv14256419, nssv14256421, nssv14256422
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesOASL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245202
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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