A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450290



Internal ID18273650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:620048..988640hg38UCSC Ensembl
Innerchr5:620163..988755hg19UCSC Ensembl
Innerchr5:673163..1041755hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38368593
hg19368593
hg18368593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428459
Supporting Variants
SamplesHGDP00473
Known GenesBRD9, CEP72, LOC100506688, 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)nssv450290
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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