A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428369



Internal ID18278133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50033753..50267318hg38UCSC Ensembl
Innerchr19:50537010..50770575hg19UCSC Ensembl
Innerchr19:55228822..55462387hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38233566
hg19233566
hg18233566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453748, nssv453752, nssv453746, nssv453739, nssv453744, nssv453745, nssv453755, nssv453757, nssv453751, nssv453758, nssv453750, nssv453743, nssv453740, nssv453749, nssv453754, nssv453741, nssv453738, nssv453747, nssv453759, nssv453756
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, NA18916, HGDP00476, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00467, NA19181, NA19113, NA19108, NA19147, HGDP01094, HGDP00474, HGDP00471, NA19096
Known GenesFLJ26850, IZUMO2, MYH14, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, ZNF473
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)nsv428369
Frequency
Sample Size62
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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