A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228799



Internal ID22370869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:184432..188892hg38UCSC Ensembl
Outerchr16:234431..238891hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384461
hg194461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260256, nssv14260257, nssv14260258
SamplesHG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228799
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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