A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262065



Internal ID22278559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:43429726..43474936hg38UCSC Ensembl
Outerchr18:41009691..41054901hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3845211
hg1945211
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220896
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262065
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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