A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25695



Internal ID15496983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11125838..11139143hg38UCSC Ensembl
Outerchr12:11125484..11140347hg38UCSC Ensembl
Innerchr12:11278437..11291742hg19UCSC Ensembl
Outerchr12:11278083..11292946hg19UCSC Ensembl
Innerchr12:11169704..11183009hg18UCSC Ensembl
Outerchr12:11169350..11184213hg18UCSC Ensembl
Innerchr12:11169704..11183009hg17UCSC Ensembl
Outerchr12:11169350..11184213hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3814864
hg1914864
hg1814864
hg1714864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA19221
Known GenesPRH1-PRR4, TAS2R30
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)nssv25695
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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