A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428447



Internal ID18278211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102182573..102340950hg38UCSC Ensembl
Innerchr4:103103730..103262107hg19UCSC Ensembl
Innerchr4:103322753..103481130hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38158378
hg19158378
hg18158378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454572
SamplesHGDP00449
Known GenesSLC39A8
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)nsv428447
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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