A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228327



Internal ID22370548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55740038..55789709hg38UCSC Ensembl
Outerchr16:55773950..55823621hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3849672
hg1949672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259250, nssv14259249, nssv14259246, nssv14259247, nssv14259248
SamplesHG00512, NA19238, HG00732, HG00513, HG00514
Known GenesCES1P1, CES1P2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228327
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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