A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452809



Internal ID18274802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196723718..196992672hg38UCSC Ensembl
Innerchr1:196692848..196961802hg19UCSC Ensembl
Innerchr1:194959471..195228425hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38268955
hg19268955
hg18268955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428290
Supporting Variants
SamplesNA19108
Known GenesCFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5
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)nssv452809
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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