A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260224



Internal ID22133060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57288152..57295693hg38UCSC Ensembl
Outerchr16:57322064..57329605hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg387542
hg197542
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215839
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260224
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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