A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21307



Internal ID15483268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11016673..11024927hg38UCSC Ensembl
Outerchr12:11015633..11025567hg38UCSC Ensembl
Innerchr12:11169272..11177526hg19UCSC Ensembl
Outerchr12:11168232..11178166hg19UCSC Ensembl
Innerchr12:11060539..11068793hg18UCSC Ensembl
Outerchr12:11059499..11069433hg18UCSC Ensembl
Innerchr12:11060539..11068793hg17UCSC Ensembl
Outerchr12:11059499..11069433hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg389935
hg199935
hg189935
hg179935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA11830
Known GenesPRH1-PRR4, TAS2R19
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)nssv21307
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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