A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8917



Internal ID15500143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11015633..11141148hg38UCSC Ensembl
Outerchr12:11168232..11293747hg19UCSC Ensembl
Outerchr12:11059499..11185014hg18UCSC Ensembl
Outerchr12:11059499..11185014hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38125516
hg19125516
hg18125516
hg17125516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19502, nssv20969, nssv18400, nssv20614, nssv20476, nssv25695, nssv21458, nssv20360, nssv23718, nssv22809, nssv23745, nssv20450, nssv20226, nssv20584, nssv20390, nssv23617, nssv22838, nssv21337, nssv21307, nssv23561, nssv25673, nssv19472, nssv24106, nssv23589, nssv18460, nssv22885, nssv21159, nssv20628, nssv23434, nssv21718, nssv18581, nssv19884
SamplesNA18502, NA11830, NA07029, NA18504, NA12155, NA12802, NA18860, NA10839, NA18975, NA10863, NA12872, NA19221, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18552
Known GenesPRH1-PRR4, TAS2R19, TAS2R30, 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)nsv8917
Frequency
Sample Size31
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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