A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227663



Internal ID22370083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58578898..58644411hg38UCSC Ensembl
Outerchr16:58612802..58678315hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3865514
hg1965514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259252, nssv14259254, nssv14259253, nssv14259251
SamplesNA19238, HG00731, HG00732, HG00733
Known GenesCNOT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227663
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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