A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8921



Internal ID15846833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11348304..11422256hg38UCSC Ensembl
Outerchr12:11501238..11575190hg19UCSC Ensembl
Outerchr12:11392505..11466457hg18UCSC Ensembl
Outerchr12:11392505..11466457hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3873953
hg1973953
hg1873953
hg1773953
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20999, nssv23518, nssv20256, nssv18979, nssv24132, nssv20433, nssv21279, nssv23799, nssv23943, nssv19532, nssv19914, nssv22914, nssv20865, nssv20644, nssv20665, nssv18905, nssv21309, nssv18611, nssv21249, nssv23772, nssv21518, nssv20480, nssv20306, nssv22867, nssv19042, nssv18875, nssv21808, nssv23673, nssv25747, nssv21367, nssv21748
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA19240, NA19144, NA12740, NA19173, NA18972
Known GenesPRB1, PRB2
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)nsv8921
Frequency
Sample Size31
Observed Gain1
Observed Loss25
Observed Complex0
Frequencyn/a


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