A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452255



Internal ID18273882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9407491..9678072hg38UCSC Ensembl
Innerchr12:9560087..9830668hg19UCSC Ensembl
Innerchr12:9451354..9721935hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38270582
hg19270582
hg18270582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428271
Supporting Variants
SamplesHGDP00984
Known GenesCLEC2D, DDX12P, KLRB1, LOC374443
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)nssv452255
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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