A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222256



Internal ID22366386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:11798379..11893337hg38UCSC Ensembl
Outerchr16:11892235..11987194hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3894959
hg1994960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260265
SamplesHG00513
Known GenesBCAR4, GSPT1, RSL1D1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222256
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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