Name | Flags | Card. | Type | Description & Constraints![]() |
---|---|---|---|---|
Σ | DomainResource | A Sequence | ||
Σ | 1..1 | code | AA | DNA | RNA sequenceType (Example) | |
Σ | 0..* | CodeableConcept | Identifier for variant and ClinVar, dbSNP or COSMIC identifier should be used dbSNP (Example) | |
Σ | 0..1 | CodeableConcept | Reference identifier. It must match the type in the Sequence.type field ENSEMBL (Example) | |
Σ | 0..1 | Quantity | Quantity of the sequence | |
Σ | 0..* | BackboneElement | The coordinate of the variant | |
Σ | 0..1 | CodeableConcept | The chromosome containing the genetic finding | |
Σ | 0..1 | integer | 0-based start position (inclusive) of the sequence | |
Σ | 0..1 | integer | 0-based end position (exclusive) of the sequence | |
Σ | 0..1 | CodeableConcept | The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37' | |
Σ | 0..1 | CodeableConcept | Supporting tests of human, viruses, and bacteria | |
Σ | 0..1 | string | Nucleotide(s)/amino acids from start position of sequence to stop position of observed sequence | |
Σ | 0..1 | string | Nucleotide(s)/amino acids from start position of sequence to stop position of reference sequence | |
Σ | 0..1 | string | Extended CIGAR string for aligning the sequence with reference bases | |
Σ | 0..* | BackboneElement | Sequence Quality | |
Σ | 0..1 | integer | 0-based start position (inclusive) of the sequence | |
Σ | 0..1 | integer | 0-based end position (exclusive) of the sequence | |
Σ | 0..1 | Quantity | Quality score | |
Σ | 0..1 | CodeableConcept | Platform | |
Σ | 0..1 | CodeableConcept | The level of occurrence of a single DNA Sequence Variation within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous LOINC 53034-5 answerlist (Example) | |
Σ | 0..1 | decimal | Allele frequencies | |
Σ | 0..1 | CodeableConcept | Copy Number Event: Values: amplificaiton / deletion / LOH | |
Σ | 0..1 | integer | Average number of reads representing a given nucleotide in the reconstructed sequence | |
Σ | 0..1 | BackboneElement | Information of chip | |
Σ | 0..1 | string | Chip id | |
Σ | 0..1 | string | Chip manufacturer id | |
Σ | 0..1 | string | Chip version | |
Σ | 0..* | BackboneElement | External repository | |
Σ | 0..1 | uri | URI of the repository | |
Σ | 0..1 | string | Name of the repository | |
Σ | 0..1 | uri | URI of the page containing information about the structure of the repository | |
Σ | 0..1 | string | Id of a GA4GH variant | |
Σ | 0..1 | string | Id of a GA4GH read group | |
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