A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452383



Internal ID18620474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57051490..57257826hg38UCSC Ensembl
Innerchr13:57625624..57831960hg19UCSC Ensembl
Innerchr13:56523625..56729961hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38206337
hg19206337
hg18206337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428289
Supporting Variants
SamplesHGDP00476
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
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)nssv452383
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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