A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262279



Internal ID22257080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3323146..3370632hg38UCSC Ensembl
Outerchr18:3323144..3370630hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3847487
hg1947487
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217957
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262279
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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