A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262832



Internal ID22133998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54386567..54443192hg38UCSC Ensembl
Outerchr18:51912937..51969562hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3856626
hg1956626
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214697
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262832
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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