A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260141



Internal ID22201673
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246549
Supporting Variants
SamplesHG00732
Known GenesMC1R, TCF25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260141
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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