A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246549



Internal ID22376450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89883326..89919832hg38UCSC Ensembl
Outerchr16:89949734..89986240hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3359n152
Supporting Variantsnssv14260141, nssv14260916, nssv14260142, nssv14260140
SamplesHG00512, NA19238, HG00732, HG00513
Known GenesMC1R, TCF25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246549
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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