A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451392



Internal ID18274077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6871593..7062627hg38UCSC Ensembl
Innerchr8:6729115..6920149hg19UCSC Ensembl
Innerchr8:6716525..6907559hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38191035
hg19191035
hg18191035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428194
Supporting Variants
SamplesHGDP01087
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv451392
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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