A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237296



Internal ID22373841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28404859..28657278hg38UCSC Ensembl
Outerchr16:28416180..28668599hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382620
hg192620
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n152
Supporting Variantsnssv14259936
SamplesHG00514
Known GenesAPOBR, CCDC101, CLN3, EIF3C, IL27, NUPR1, SULT1A1, SULT1A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237296
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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