A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260281



Internal ID22187407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28343932..28482154hg38UCSC Ensembl
Outerchr16:28355253..28493475hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38138223
hg19138223
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216867
Supporting Variants
SamplesHG00731
Known GenesCLN3, EIF3C, EIF3CL, MIR6862-1, MIR6862-2, NPIPB6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260281
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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