A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452289



Internal ID18273986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39728911..39805819hg38UCSC Ensembl
Innerchr12:40122713..40199621hg19UCSC Ensembl
Innerchr12:38408980..38485888hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3876909
hg1976909
hg1876909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428280
Supporting Variants
SamplesHGDP00986
Known GenesSLC2A13
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)nssv452289
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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