A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266632



Internal ID22259677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20115914..20137605hg38UCSC Ensembl
Outerchr20:20096558..20118249hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3821692
hg1921692
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216210
Supporting Variants
SamplesNA19238
Known GenesC20orf26
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266632
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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