A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20226



Internal ID15482936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11027975..11100458hg38UCSC Ensembl
Outerchr12:11025991..11101171hg38UCSC Ensembl
Innerchr12:11180574..11253057hg19UCSC Ensembl
Outerchr12:11178590..11253770hg19UCSC Ensembl
Innerchr12:11071841..11144324hg18UCSC Ensembl
Outerchr12:11069857..11145037hg18UCSC Ensembl
Innerchr12:11071841..11144324hg17UCSC Ensembl
Outerchr12:11069857..11145037hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3875181
hg1975181
hg1875181
hg1775181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA10863
Known GenesPRH1-PRR4, 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)nssv20226
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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