A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239801



Internal ID22374532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:27060305..27074180hg38UCSC Ensembl
Outerchr13:27634442..27648317hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg382213
hg192213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257289, nssv14257288, nssv14257291, nssv14257294, nssv14257292, nssv14257290, nssv14257293
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesUSP12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239801
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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