A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259140



Internal ID22201344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:184894..193041hg38UCSC Ensembl
Outerchr16:234893..243040hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388148
hg198148
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215719
Supporting Variants
SamplesHG00732
Known GenesLUC7L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259140
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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