A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262827



Internal ID22308343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49464518..49481977hg38UCSC Ensembl
Outerchr18:46990888..47008347hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3817460
hg1917460
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226852
Supporting Variants
SamplesNA19240
Known GenesC18orf32, RPL17-C18orf32
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262827
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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