A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242382



Internal ID21305995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116767251..116769657hg38UCSC Ensembl
Outerchr5:116765415..116771676hg38UCSC Ensembl
Innerchr5:116102947..116105353hg19UCSC Ensembl
Outerchr5:116101111..116107372hg19UCSC Ensembl
Innerchr5:116130846..116133252hg18UCSC Ensembl
Outerchr5:116129010..116135271hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg386262
hg196262
hg186262
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169399
Supporting Variants
SamplesNGO_24
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242382
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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