A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428450



Internal ID18624900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131676282..132009571hg38UCSC Ensembl
Innerchr4:132597437..132930726hg19UCSC Ensembl
Innerchr4:132816887..133150176hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38333290
hg19333290
hg18333290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454624, nssv454630, nssv450135, nssv450136, nssv454629, nssv454627, nssv450139, nssv450134, nssv454628, nssv454623, nssv450141, nssv450137, nssv450133, nssv450138
SamplesHGDP00462, HGDP00463, HGDP01088, HGDP01089, NA18498, HGDP00476, HGDP00450, HGDP00473, HGDP00467, HGDP00984, HGDP00471, HGDP00478, HGDP01086, HGDP00449
Known Genes
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)nsv428450
Frequency
Sample Size62
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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