A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262829



Internal ID22302768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50291640..50306163hg38UCSC Ensembl
Outerchr18:47818010..47832533hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3814524
hg1914524
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217678
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262829
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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