A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428406



Internal ID18624856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213326553..213501129hg38UCSC Ensembl
Innerchr2:214191277..214365853hg19UCSC Ensembl
Innerchr2:213899522..214074098hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38174577
hg19174577
hg18174577
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454155, nssv454164, nssv454156, nssv454157, nssv454172, nssv454162, nssv454171, nssv454168, nssv454153, nssv454167, nssv454159, nssv454170, nssv454166, nssv454158, nssv454161, nssv454152, nssv454169, nssv454173, nssv454160, nssv454163
SamplesHGDP01087, HGDP00462, HGDP00463, HGDP01089, NA18916, NA18498, NA19189, HGDP00450, HGDP00467, NA19181, NA19113, NA19225, NA19108, NA19147, HGDP00984, HGDP00472, HGDP00474, NA19096, HGDP01086, HGDP00449
Known GenesSPAG16
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)nsv428406
Frequency
Sample Size62
Observed Gain16
Observed Loss4
Observed Complex0
Frequencyn/a


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