A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9212n152



Internal ID22824915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72106457..72121967hg38UCSC Ensembl
chr8:73018692..73034202hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3815511
hg1915511
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3234547, nsv3236984
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9212n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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