A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18581



Internal ID15485706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11024927..11140347hg38UCSC Ensembl
Outerchr12:11023868..11141148hg38UCSC Ensembl
Innerchr12:11177526..11292946hg19UCSC Ensembl
Outerchr12:11176467..11293747hg19UCSC Ensembl
Innerchr12:11068793..11184213hg18UCSC Ensembl
Outerchr12:11067734..11185014hg18UCSC Ensembl
Innerchr12:11068793..11184213hg17UCSC Ensembl
Outerchr12:11067734..11185014hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38117281
hg19117281
hg18117281
hg17117281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA12872
Known GenesPRH1-PRR4, TAS2R30, TAS2R31, TAS2R43, TAS2R46
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv18581
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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