A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452687



Internal ID18274639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196723718..196843652hg38UCSC Ensembl
Innerchr1:196692848..196812782hg19UCSC Ensembl
Innerchr1:194959471..195079405hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38119935
hg19119935
hg18119935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428290
Supporting Variants
SamplesNA19096
Known GenesCFH, CFHR1, CFHR3
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)nssv452687
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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