A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450306



Internal ID18273714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:620048..1161361hg38UCSC Ensembl
Innerchr5:620163..1161476hg19UCSC Ensembl
Innerchr5:673163..1214476hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38541314
hg19541314
hg18541314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428459
Supporting Variants
SamplesHGDP00474
Known GenesBRD9, CEP72, LOC100506688, MIR4635, NKD2, SLC12A7, TPPP, TRIP13, ZDHHC11
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)nssv450306
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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