A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23718



Internal ID15487296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11027975..11052110hg38UCSC Ensembl
Outerchr12:11025991..11052528hg38UCSC Ensembl
Innerchr12:11180574..11204709hg19UCSC Ensembl
Outerchr12:11178590..11205127hg19UCSC Ensembl
Innerchr12:11071841..11095976hg18UCSC Ensembl
Outerchr12:11069857..11096394hg18UCSC Ensembl
Innerchr12:11071841..11095976hg17UCSC Ensembl
Outerchr12:11069857..11096394hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3826538
hg1926538
hg1826538
hg1726538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA18517
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)nssv23718
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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