ISCN Notation for Structural Variants (Karyotype)

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9 Terms

1
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Karyotype Format

Total Count, Sex Chromosomes, Abnormalities

2
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Deletion

del

3
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Duplication

dup

4
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Inversion

inv

5
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Transloaction

t

6
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Derivative Chromosome

der

7
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Marker Chromosome (unknown)

mar

8
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Gain of Whole Chromosome

+

9
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Loss of Whole Chromosome

-