A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv456n152



Internal ID22816159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167195197..167212125hg38UCSC Ensembl
chr1:167164434..167181362hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3816929
hg1916929
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3226599, nsv3228631
SamplesHG00512, NA19238, 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)dgv456n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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