A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452265



Internal ID18274583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10917246..11561987hg38UCSC Ensembl
Innerchr12:11069845..11714921hg19UCSC Ensembl
Innerchr12:10961112..11606188hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38644742
hg19645077
hg18645077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428272
Supporting Variants
SamplesNA18916
Known GenesLOC100129361, LOC338817, PRB1, PRB2, PRB3, PRB4, PRH1-PRR4, PRH2, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50
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)nssv452265
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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