A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230792



Internal ID22372033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6305468..6312269hg38UCSC Ensembl
Outerchr12:6414634..6421435hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381932
hg191932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256305, nssv14256308, nssv14256307, nssv14256304, nssv14256303, nssv14256306, nssv14256309
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesPLEKHG6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230792
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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