A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428367



Internal ID18278131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47788899..48039659hg38UCSC Ensembl
Innerchr19:48292156..48542916hg19UCSC Ensembl
Innerchr19:52983968..53234728hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38250761
hg19250761
hg18250761
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453729, nssv453723, nssv453722, nssv453724, nssv453727, nssv453736, nssv453728, nssv453730, nssv453735, nssv453734, nssv453733, nssv453732, nssv453725, nssv453737, nssv453726
SamplesHGDP00450, HGDP00474, NA19257, NA19108, HGDP00476, HGDP01087, HGDP01094, NA19181, NA19189, HGDP00467, NA18498, NA19113, HGDP00460, HGDP00473, HGDP00471
Known GenesBSPH1, CABP5, CRX, ELSPBP1, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SULT2A1, TPRX1
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)nsv428367
Frequency
Sample Size62
Observed Gain2
Observed Loss13
Observed Complex0
Frequencyn/a


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