A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260314



Internal ID22119232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:86011357..86017480hg38UCSC Ensembl
Outerchr16:86044963..86051086hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38938
hg19938
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233311
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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