A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262055



Internal ID22286625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:28681987..28702882hg38UCSC Ensembl
Outerchr18:26261951..26282846hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3820896
hg1920896
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213693
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262055
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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