A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452360



Internal ID18273760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52154235..52493997hg38UCSC Ensembl
Innerchr13:52728370..53068132hg19UCSC Ensembl
Innerchr13:51626371..51966133hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38339763
hg19339763
hg18339763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428288
Supporting Variants
SamplesHGDP00476
Known GenesCKAP2, MRPS31P5, NEK3, THSD1, TPTE2P3, VPS36
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)nssv452360
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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