Structural variation (struc.var.)
Abbreviation |
Struc.var. | ||
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Definition in words |
Kind-of-property designating sequence variation consisting of deviations in the position of one or more parts of the sequence from a reference sequence of the same kind. Note: Used to describe position changes (inversions, translocations, insertions, deletions) of large regions of DNA (approximately 1 kb and larger in size) |
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Systematic terms
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Structural variation of component B in system 1 | ||
Result type |
Narrative description |
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Special rule(s) in the NPU syntax |
“Procedure” is stated in the specification to the kind-of-property in the NPU definition “Procedure” indicates that the measurement procedure must be stated somewhere else than the NPU code and there may be difficulties in comparing values for the same NPU code. |
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Reference |
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Laboratory field |
Examples |
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Molecular Biology and Genetics
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Example 1 | |
Generic abbreviated form | NPU58070 DNA(spec.)—CYP2D6 gene(NG_008376.3:g.1_8953del); struc.var.(proc.) = ? | |
Full form with a result | NPU58070 DNA(specification)—CYP2D6 gene(NG_008376.3:g.1_8953del); structure variation(procedure) = NG_008376.3:g.1_8953[Del)];[Del] | |
Abbreviated form with a result | NPU58070 DNA(spec.)—CYP2D6 gene(NG_008376.3:g.1_8953del); struc.var.(proc.) = NG_008376.3:g.1_8953[Del)];[Del] | |
Written expression | The structural variation of CYP2D6 gene(NG_008376.3:g.1_8953del) of DNA from leukocytes derived in Mr. Smith’s blood is [NG_008376.3:g.1_8953[Del)];[Del]]. The examination is performed according to procedure defined by the laboratory. | |
Notes |
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Example 2 | ||
Generic abbreviated form | NPU58075 DNA(spec.)—CYP2D6 gene(NG_008376.3:g.1_8953dup); struc.var.(proc.) = ? | |
Full form with a result | NPU58075 DNA(specification)—CYP2D6 gene(NG_008376.3:g.1_8953dup); structural variation(procedure) = NG_008376.3:g.1_8953[Dup)];[Dup] | |
Abbreviated form with a result | NPU58075 DNA(spec.)—CYP2D6 gene(NG_008376.3:g.1_8953dup); struc.var.(proc.) = NG_008376.3:g.1_8953[Dup)];[Dup] | |
Written expression | The structural variation of CYP2D6 gene(NG_008376.3:g.1_8953dup) of DNA from leukocytes derived in Mr. Smith’s blood is [NG_008376.3:g.1_8953[Dup)];[Dup]]. The examination is performed according to procedure defined by the laboratory. | |
Notes |
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Reference |
NPU database, https://www.ifcc.org/ifcc-scientific-division/sd-committees/c-npu/npusearch/ and http://www.labterm.dk/default.aspx |
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Kind-of-property
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Variation
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Sequence variation
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Structural variation
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Reference |
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Date | Term | Note | Reference |
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2017-03-27 | Structural variation | Term established |
Ulla M. Petersen, Ariadna Padró-Miquel, Graham Taylor, Jens Michael Hertz, Rebecca Ceder, Xavier Fuentes-Arderiu, Johan T. den Dunnen, Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (technical report 2017), Clinica Chimica Acta, Volume 484,2018,Pages 122-131,ISSN 0009-8981, https://doi.org/10.1016/j.cca.2018.05.028. |
NPU term identifier |
QU104024 |