A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262803



Internal ID22133990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26157457..26186020hg38UCSC Ensembl
Outerchr18:23737421..23765984hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3828564
hg1928564
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221354
Supporting Variants
SamplesHG00513
Known GenesPSMA8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262803
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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