A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248117



Internal ID21303180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33316866..33328267hg38UCSC Ensembl
Outerchr20:33312969..33337672hg38UCSC Ensembl
Innerchr20:31904672..31916073hg19UCSC Ensembl
Outerchr20:31900775..31925478hg19UCSC Ensembl
Innerchr20:31368333..31379734hg18UCSC Ensembl
Outerchr20:31364436..31389139hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3824704
hg1924704
hg1824704
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169840
Supporting Variants
SamplesMLY_4
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248117
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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