A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428128



Internal ID18277892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146124415..146303317hg38UCSC Ensembl
Innerchr5:145503978..145682880hg19UCSC Ensembl
Innerchr5:145484171..145663073hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38178903
hg19178903
hg18178903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450506
SamplesHGDP00478
Known GenesLARS, RBM27
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)nsv428128
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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