A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820101



Internal ID8551791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132679652..132680202hg38UCSC Ensembl
Innerchr12:133256238..133256788hg19UCSC Ensembl
Innerchr12:131766311..131766861hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38551
hg19551
hg18551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419001
SamplesAK1
Known GenesPOLE
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)nsv820101
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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