A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259255



Internal ID22132754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:60004616..60084768hg38UCSC Ensembl
Outerchr16:60038520..60118672hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3880153
hg1980153
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221145
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259255
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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