A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv112n152



Internal ID22815815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13050524..13080619hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3830096
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3227308, nsv3224625
SamplesHG00512, NA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv112n152
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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