A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231023



Internal ID22372105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:86246134..86274910hg38UCSC Ensembl
Outerchr12:86639912..86668688hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387225
hg197225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255425, nssv14255423, nssv14255422, nssv14255424, nssv14255418, nssv14255419, nssv14255417, nssv14255420, nssv14255421
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMGAT4C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231023
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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