A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428428



Internal ID18278192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191219045..191497807hg38UCSC Ensembl
Innerchr3:190936834..191215596hg19UCSC Ensembl
Innerchr3:192419528..192698290hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38278763
hg19278763
hg18278763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454303, nssv454302
SamplesNA18498, NA19096
Known GenesCCDC50, OSTN, PYDC2, UTS2B
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)nsv428428
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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