A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248533



Internal ID22377016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6885152..6915068hg38UCSC Ensembl
Outerchr12:6994316..7024232hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256213, nssv14256214, nssv14256212, nssv14256211, nssv14256206, nssv14256210, nssv14256209, nssv14256207, nssv14256208
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDSTNP2, ENO2, LRRC23
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248533
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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