A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260254



Internal ID22119218
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224036
Supporting Variants
SamplesHG00512
Known GenesCENPN, CMC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260254
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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