A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428435



Internal ID18278199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3385046..3621594hg38UCSC Ensembl
Innerchr4:3386773..3623321hg19UCSC Ensembl
Innerchr4:3356571..3593119hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38236549
hg19236549
hg18236549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454363
SamplesNA19113
Known GenesDOK7, HGFAC, LINC00955, LRPAP1, RGS12
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)nsv428435
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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