A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819204



Internal ID15583905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104287027..104288500hg38UCSC Ensembl
Innerchr12:104680805..104682278hg19UCSC Ensembl
Innerchr12:103204935..103206408hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381474
hg191474
hg181474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419272
SamplesAK1
Known GenesTXNRD1
MethodOligo aCGH
AnalysisThe array was scanned with Agilent DNA microarray scanner at 2 micron resolution. The resulting image was extracted by Agilent's Feature Extraction software. The log2 ratios were analyzed using NEXUS software. Each aberration call was manually checked to confirm the accuracy of the calls.
PlatformGSE19651
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819204
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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