A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266313



Internal ID22121182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:19240256..19251624hg38UCSC Ensembl
Outerchr20:19220900..19232268hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3811369
hg1911369
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226837
Supporting Variants
SamplesHG00512
Known GenesLOC100130264, SLC24A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266313
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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