A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452267



Internal ID18275306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11018111..11539308hg38UCSC Ensembl
Innerchr12:11170710..11692242hg19UCSC Ensembl
Innerchr12:11061977..11583509hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38521198
hg19521533
hg18521533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428272
Supporting Variants
SamplesNA19257
Known GenesLOC100129361, PRB1, PRB2, PRB3, PRB4, PRH1-PRR4, TAS2R19, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46
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)nssv452267
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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