A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428459



Internal ID18278223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:620048..1195577hg38UCSC Ensembl
Innerchr5:620163..1195692hg19UCSC Ensembl
Innerchr5:673163..1248692hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38575530
hg19575530
hg18575530
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450299, nssv450294, nssv450305, nssv450311, nssv450295, nssv450293, nssv450273, nssv450303, nssv450302, nssv450290, nssv450272, nssv450308, nssv450292, nssv450304, nssv450310, nssv450296, nssv450297, nssv450306, nssv450291, nssv450307, nssv450289
SamplesHGDP01093, HGDP01088, NA18916, NA18498, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00472, HGDP00474, HGDP00471, NA19096, HGDP00478, HGDP01086, HGDP00449
Known GenesBRD9, CEP72, LOC100506688, MIR4635, NKD2, SLC12A7, TPPP, TRIP13, ZDHHC11
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)nsv428459
Frequency
Sample Size62
Observed Gain19
Observed Loss2
Observed Complex0
Frequencyn/a


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