A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247379



Internal ID21305924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:25422585..25480195hg38UCSC Ensembl
Outerchr5:25419980..25485709hg38UCSC Ensembl
Innerchr5:25422694..25480304hg19UCSC Ensembl
Outerchr5:25420089..25485818hg19UCSC Ensembl
Innerchr5:25458451..25516061hg18UCSC Ensembl
Outerchr5:25455846..25521575hg18UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3865730
hg1965730
hg1865730
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170040
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)nssv14247379
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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