A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1880n152



Internal ID22817583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63283682..63311499hg38UCSC Ensembl
chr12:63677462..63705279hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3827818
hg1927818
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3233071, nsv3244018
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1880n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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