A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219904



Internal ID22364776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:22843730..22848169hg38UCSC Ensembl
Outerchr16:22855051..22859490hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384440
hg194440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3177n152
Supporting Variantsnssv14260213
SamplesNA19240
Known GenesHS3ST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219904
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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