A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262076



Internal ID22277808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50333778..50352231hg38UCSC Ensembl
Outerchr18:47860148..47878601hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3818454
hg1918454
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215230
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262076
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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