A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248031



Internal ID22376865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125313113..125322196hg38UCSC Ensembl
Outerchr12:125797659..125806742hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256986, nssv14256989, nssv14256987, nssv14256993, nssv14256990, nssv14256991, nssv14256985, nssv14256992, nssv14256988
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)nsv3248031
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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