A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450396



Internal ID18272961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21812371..22090409hg38UCSC Ensembl
Innerchr5:21812480..22090518hg19UCSC Ensembl
Innerchr5:21848237..22126275hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38278039
hg19278039
hg18278039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428115
Supporting Variants
SamplesHGDP00449
Known GenesCDH12
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)nssv450396
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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