Other Variation Kb End PosOther Variation Kb Start PosOther Variation Type
| Business Data Model Data Model |
| Description | Other polymorphisms where the genome varies between individuals. Deletions are designated by "del" after the nucleotide(s) flanking the deletion site 76_78del (alternatively 76_78delACT) denotes a ACT deletion from nucleotides 76 to 78 82_83del (alternatively 82_83delTG) denotes a TG deletion in the sequence ACTTTGTGCC (A is nucleotide 76) to ACTTTGCC IVS2_IVS5del (alternatives 88+?_923+? or EX3_5del) denotes an exonic deletion starting at an unknown position in intron 2 (after nucleotide 88) and ending at an unknown position in intron 5 (after nucleotide 923) Insertions are designated by "ins" after the nucleotides flanking the insertion site, followed by the nucleotides inserted NOTE: as separator the "^"-character is sometimes used but this is not recommended (for example, 83^84insTG) 76_77insT denotes that a T was inserted between nucleotides 76 and 77 83_84insTG denotes a TG insertion in the TG-tandem repeat sequence of ACTTTGTGCC (A is nucleotide 76) to ACTTTGTGTGCC. Note that this sequence variation (a duplicating insertion) can also be described as a duplication, i.e. 82_83dupTG (see "duplications") Insertion/Deletions (indels) are described as a deletion followed by an insertion after the nucleotides affected 112_117delinsTG (alternatively 112_117delAGGTCAinsTG or 112_117TG) denotes the replacement of nucleotides 112 to 117 (AGGTCA) by TG Duplications are designated by "dup" after the nucleotides flanking the duplication site, 77_79dupCTG denotes that the nucleotides 77 to 79 were duplicated duplicating insertions in short tandem repeats (or single nucleotide stretches) can also be described as a duplication, for example, a TG insertion in the TG-tandem repeat sequence of ACTTTGTGCC (A is nt 76) to ACTTTGTGTGCC can be described as 82_83dupTG (now 83_84insTG) Inversions are designated by "inv" after the nucleotides flanking the inversion site 203_506inv (or 203_506inv304) denotes that the 304 nucleotides from position 203 to 506 have been inverted Translocations (no suggestions yet) changes in different alleles (for example, in recessive diseases) are described as "[change allele 1] + [change allele 2]" [76AC] + [76AC] denotes a homozygous A to C change at nucleotide 76 [76AC] + [?] denotes a A to C change at nucleotide 76 in one allele and an unknown change in the other allele |
| Attributes | |
| Other Variation Kb End Pos |
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| Other Variation Kb Start Pos |
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| Other Variation Type |
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| Generalization | |
 Other_Variation_Sequence_Variation_FK |
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| Dependencies | |
 NONE |
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| Reverse Dependencies | |
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| Attribute Details |
Other Variation Kb End Pos
| Description | The location where the variation ends. Unit of length for DNA fragments equal to 1000 nucleotides. kb (= kbp) = kilo base pairs = 1,000 bp |
| Data Type | Standards - Data Domains.ddm/Data Domains/Position [INTEGER] |
| Is Part Of PrimaryKey | false |
| Is Required | false |
| Is Derived | false |
| Is Surrogate Key | false |
Other Variation Kb Start Pos
| Description | The location where the other variation starts. Unit of length for DNA fragments equal to 1000 nucleotides. kb (= kbp) = kilo base pairs = 1,000 bp |
| Data Type | Standards - Data Domains.ddm/Data Domains/Position [INTEGER] |
| Is Part Of PrimaryKey | false |
| Is Required | false |
| Is Derived | false |
| Is Surrogate Key | false |
Other Variation Type
| Description | Indicates whether it is one of the following: 1) Deletions 2) Insertions 3) Insertions/Deletions 4) Duplications 5) Inversions 6) Translocations |
| Data Type | Standards - Data Domains.ddm/Data Domains/Enumeration [VARCHAR(20)] |
| Is Part Of PrimaryKey | false |
| Is Required | false |
| Is Derived | false |
| Is Surrogate Key | false |
| Generalization Details |
Other_Variation_Sequence_Variation_FK
| Supertype | Sequence Variation |
| Subtype | Other Variation |
| Transform As | TABLE |
| Business Data Model Data Model |