A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216867



Internal ID22362717
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260281
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)nsv3216867
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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