A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1680n152



Internal ID22817383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1529944..1574710hg38UCSC Ensembl
chr12:1639110..1683876hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3844767
hg1944767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3234573, nsv3231147
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFBXL14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1680n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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