A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266674



Internal ID22262113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34218015..34235115hg38UCSC Ensembl
Outerchr20:32805821..32822921hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3817101
hg1917101
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222531
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266674
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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