A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428437



Internal ID18278201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8520446..9762549hg38UCSC Ensembl
Innerchr4:8522173..9764173hg19UCSC Ensembl
Innerchr4:8573073..9373271hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381242104
hg191242001
hg18800199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454397, nssv454400, nssv454380, nssv454388, nssv454378, nssv454392, nssv454394, nssv454375, nssv454396, nssv454389, nssv454386, nssv454374, nssv454379, nssv454395, nssv454403, nssv454377, nssv454401, nssv454393, nssv454382, nssv454383, nssv454390, nssv454402, nssv454384, nssv454381, nssv454399, nssv454391, nssv454404
SamplesHGDP00450, HGDP00474, HGDP00984, NA19257, NA19108, NA19147, HGDP00476, HGDP01093, HGDP01087, HGDP01094, NA19096, NA18916, NA19181, HGDP01089, NA19189, HGDP00467, NA18498, HGDP01088, HGDP01086, NA19225, HGDP00478, NA19113, HGDP00460, HGDP00473, HGDP00449, HGDP00472, HGDP00471
Known GenesCPZ, DEFB131, GPR78, HMX1, LOC650293, MIR548I2, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)nsv428437
Frequency
Sample Size62
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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