A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428289



Internal ID18624739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57051490..57257826hg38UCSC Ensembl
Innerchr13:57625624..57831960hg19UCSC Ensembl
Innerchr13:56523625..56729961hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38206337
hg19206337
hg18206337
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452379, nssv452382, nssv452384, nssv452380, nssv452397, nssv452390, nssv452388, nssv452389, nssv452392, nssv452385, nssv452395, nssv452393, nssv452400, nssv452396, nssv452402, nssv452386, nssv452391, nssv452394, nssv452399, nssv452381, nssv452383
SamplesHGDP00462, HGDP01093, HGDP00463, HGDP01088, NA18916, NA18498, HGDP00476, NA19189, HGDP00450, HGDP00986, HGDP00467, NA19181, NA19113, NA19257, NA19108, NA19147, HGDP01094, HGDP00984, NA19096, HGDP01086, HGDP00449
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
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)nsv428289
Frequency
Sample Size62
Observed Gain17
Observed Loss4
Observed Complex0
Frequencyn/a


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