A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266609



Internal ID22258231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4018706..4045162hg38UCSC Ensembl
Outerchr20:3999353..4025809hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3826457
hg1926457
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217446
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266609
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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