A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428427



Internal ID18624877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:181133808..181288854hg38UCSC Ensembl
Innerchr3:180851596..181006642hg19UCSC Ensembl
Innerchr3:182334290..182489336hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38155047
hg19155047
hg18155047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454297, nssv454296
SamplesHGDP00463, NA19096
Known GenesSOX2-OT
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)nsv428427
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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