A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267184



Internal ID22121458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48467216..48530341hg38UCSC Ensembl
Outerchr20:47095462..47146879hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3863126
hg1951418
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212694
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267184
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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