A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236137



Internal ID22373497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12778474..12805458hg38UCSC Ensembl
Outerchr12:12931408..12958392hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381762
hg191762
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255298, nssv14255299, nssv14255303, nssv14255301, nssv14255297, nssv14255300, nssv14255296, nssv14255302
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesAPOLD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236137
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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