A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450506



Internal ID18273804
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 StatusS
Merged Variantsnsv428128
Supporting Variants
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)nssv450506
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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