A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3359n152



Internal ID22819062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89883326..89919832hg38UCSC Ensembl
chr16:89949734..89986240hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3836507
hg1936507
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3246549, nsv3246319
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known GenesMC1R, TCF25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3359n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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