A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224036



Internal ID22367603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:80922030..81007083hg38UCSC Ensembl
Outerchr16:80955927..81040688hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3885054
hg1984762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260254
SamplesHG00512
Known GenesCENPN, CMC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224036
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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