A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428434



Internal ID18278198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1623665..1813048hg38UCSC Ensembl
Innerchr4:1625392..1814775hg19UCSC Ensembl
Innerchr4:1595351..1784573hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38189384
hg19189384
hg18189223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454361
SamplesHGDP00450
Known GenesFAM53A, FGFR3, LETM1, SLBP, TACC3, TMEM129
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)nsv428434
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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