A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248049



Internal ID21307668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2153667..2267878hg38UCSC Ensembl
Outerchr8:2149480..2274349hg38UCSC Ensembl
Innerchr8:2101595..2213652hg19UCSC Ensembl
Outerchr8:2097403..2220405hg19UCSC Ensembl
Innerchr8:2089002..2201059hg18UCSC Ensembl
Outerchr8:2084810..2207812hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38124870
hg19123003
hg18123003
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169893
Supporting Variants
SamplesNGO_36
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248049
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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