Abbreviation |
Cnv | ||
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Definition in words |
Kind-of-property designating structural variation in the number of copies of one or more specific sequences from a reference sequence of the same kind.(Ref 1) 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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Copy number variation of component B in system 1 | ||
Result type |
Narrative description |
Note: Value sets for genetic or (protein sequence) examination are expressed by Sequence Variant Nomenclature (HGVS-nomenclature). |
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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 | NPUxxxxx DNA(B)—LDLR gene(LRG_274t1); cnv(proc.) = ? | |
Full form with a result | NPUxxxxx DNA(Blood)—LDLR gene(LRG_274t1); copy number variation (procedure) = LRG_274t1:c.(2311+1_2312-1)_(∗807_?)del | |
Abbreviated form with a result | NPUxxxxx DNA(Blood)—LDLR gene(LRG_274t1); cnv (proc.) = LRG_274t1:c.(2311+1_2312-1)_(∗807_?)del | |
Written expression | The copy number variation of LDLR gene(LRG_274t1) of DNA in Mr. Smith’s blood is [ LRG_274t1:c.(2311+1_2312-1)_(∗807_?)del]. The examination is performed according to procedure defined by the laboratory. | |
Notes | The NPU code is established according to model of Molecular biology and Genetics | |
Example 2 | ||
Generic abbreviated form | NPUxxxxx DNA(spec.)—DMD gene; cnv(proc.) = ? | |
Full form with a result | NPUxxxxx DNA(spec.)—DMD gene; copy number variation(procedure) = NG_012232.1(NM_004006.1):c.4072-1234_5155-246del | |
Abbreviated form with a result | NPUxxxxx DNA(spec.)—DMD gene; cnv(proc.) = NG_012232.1(NM_004006.1):c.4072-1234_5155-246del | |
Written expression | The copy number variation of DMD gene of DNA in Mr. Smith’s Plasma is [LRG_304:g.6529_6530AC[11];[19]]. 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 |
Kind-of-property
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Variation
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Sequence variation
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Structural variation
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Copy number variation
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Date | Term | Note | Reference |
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2016-06-21 | Copy number 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 |
QU103472 |
Date | Notes |
Example |
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2019-12-04 | This kind-of-property may be used for repeat expansion disorders |