A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19472



Internal ID15480917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11027975..11039693hg38UCSC Ensembl
Outerchr12:11025991..11040103hg38UCSC Ensembl
Innerchr12:11180574..11192292hg19UCSC Ensembl
Outerchr12:11178590..11192702hg19UCSC Ensembl
Innerchr12:11071841..11083559hg18UCSC Ensembl
Outerchr12:11069857..11083969hg18UCSC Ensembl
Innerchr12:11071841..11083559hg17UCSC Ensembl
Outerchr12:11069857..11083969hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3814113
hg1914113
hg1814113
hg1714113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA07029
Known GenesPRH1-PRR4, TAS2R31
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)nssv19472
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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