A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452675



Internal ID18274579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196621707..196992672hg38UCSC Ensembl
Innerchr1:196590837..196961802hg19UCSC Ensembl
Innerchr1:194857460..195228425hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38370966
hg19370966
hg18370966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428290
Supporting Variants
SamplesNA18916
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)nssv452675
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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