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Issue #597 - remove and refactor CNVs #600

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92 changes: 0 additions & 92 deletions schema/vrs/def/CopyNumber.rst

This file was deleted.

12 changes: 6 additions & 6 deletions schema/vrs/def/CopyNumberChange.rst
Original file line number Diff line number Diff line change
Expand Up @@ -23,7 +23,7 @@ An assessment of the copy number of a :ref:`Location` or a :ref:`Gene` within a

**Information Model**

Some CopyNumberChange attributes are inherited from :ref:`CopyNumber`.
Some CopyNumberChange attributes are inherited from :ref:`Variation`.

.. list-table::
:class: clean-wrap
Expand Down Expand Up @@ -80,16 +80,16 @@ Some CopyNumberChange attributes are inherited from :ref:`CopyNumber`.
- :ref:`Expression`
- 0..m
-
* - location
-
- :ref:`iriReference` | :ref:`Location`
- 1..1
- A location for which the number of systemic copies is described.
* - type
-
- string
- 1..1
- MUST be "CopyNumberChange"
* - location
-
- :ref:`iriReference` | :ref:`Location`
- 1..1
- The location of the subject of the copy change.
* - copyChange
-
- :ref:`Coding`
Expand Down
16 changes: 8 additions & 8 deletions schema/vrs/def/CopyNumberCount.rst
Original file line number Diff line number Diff line change
@@ -1,5 +1,5 @@
.. warning:: This data class is at a **draft** maturity level and may \
change significantly in future releases. Maturity \
.. note:: This data class is at a **trial use** maturity level and may \
change in future releases. Maturity \
levels are described in the :ref:`maturity-model`.

**Computational Definition**
Expand All @@ -23,7 +23,7 @@ The absolute count of discrete copies of a :ref:`Location` or :ref:`Gene`, withi

**Information Model**

Some CopyNumberCount attributes are inherited from :ref:`CopyNumber`.
Some CopyNumberCount attributes are inherited from :ref:`Variation`.

.. list-table::
:class: clean-wrap
Expand Down Expand Up @@ -80,16 +80,16 @@ Some CopyNumberCount attributes are inherited from :ref:`CopyNumber`.
- :ref:`Expression`
- 0..m
-
* - location
-
- :ref:`iriReference` | :ref:`Location`
- 1..1
- A location for which the number of systemic copies is described.
* - type
-
- string
- 1..1
- MUST be "CopyNumberCount"
* - location
-
- :ref:`iriReference` | :ref:`Location`
- 1..1
- The location of the subject of the copy count.
* - copies
-
- integer | :ref:`Range`
Expand Down
14 changes: 7 additions & 7 deletions schema/vrs/json/CopyNumberChange
Original file line number Diff line number Diff line change
Expand Up @@ -56,6 +56,12 @@
"$ref": "/ga4gh/schema/vrs/2.x/json/Expression"
}
},
"type": {
"type": "string",
"const": "CopyNumberChange",
"default": "CopyNumberChange",
"description": "MUST be \"CopyNumberChange\""
},
"location": {
"oneOf": [
{
Expand All @@ -65,13 +71,7 @@
"$ref": "/ga4gh/schema/gks-core/1.x/json/iriReference"
}
],
"description": "A location for which the number of systemic copies is described."
},
"type": {
"type": "string",
"const": "CopyNumberChange",
"default": "CopyNumberChange",
"description": "MUST be \"CopyNumberChange\""
"description": "The location of the subject of the copy change."
},
"copyChange": {
"$ref": "/ga4gh/schema/gks-core/1.x/json/Coding",
Expand Down
16 changes: 8 additions & 8 deletions schema/vrs/json/CopyNumberCount
Original file line number Diff line number Diff line change
Expand Up @@ -3,7 +3,7 @@
"$id": "https://w3id.org/ga4gh/schema/vrs/2.x/json/CopyNumberCount",
"title": "CopyNumberCount",
"type": "object",
"maturity": "draft",
"maturity": "trial use",
"ga4ghDigest": {
"keys": [
"copies",
Expand Down Expand Up @@ -56,6 +56,12 @@
"$ref": "/ga4gh/schema/vrs/2.x/json/Expression"
}
},
"type": {
"type": "string",
"const": "CopyNumberCount",
"default": "CopyNumberCount",
"description": "MUST be \"CopyNumberCount\""
},
"location": {
"oneOf": [
{
Expand All @@ -65,13 +71,7 @@
"$ref": "/ga4gh/schema/gks-core/1.x/json/iriReference"
}
],
"description": "A location for which the number of systemic copies is described."
},
"type": {
"type": "string",
"const": "CopyNumberCount",
"default": "CopyNumberCount",
"description": "MUST be \"CopyNumberCount\""
"description": "The location of the subject of the copy count."
},
"copies": {
"oneOf": [
Expand Down
42 changes: 20 additions & 22 deletions schema/vrs/vrs-source.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -191,30 +191,15 @@ $defs:
# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# SystemicVariation

CopyNumber:
maturity: draft
ga4ghDigest:
keys:
- location
inherits: SystemicVariation
description: >-
A measure of the copies of a :ref:`Location` within a system (e.g. genome, cell, etc.)
heritableProperties:
location:
oneOf:
- $ref: "/ga4gh/schema/gks-core/1.x/json/iriReference"
- $ref: "#/$defs/Location"
description: >-
A location for which the number of systemic copies is described.
heritableRequired: [ "location" ]


CopyNumberCount:
maturity: draft
maturity: trial use
ga4ghDigest:
keys:
- location
- copies
prefix: CN
inherits: CopyNumber
inherits: SystemicVariation
type: object
description: >-
The absolute count of discrete copies of a :ref:`Location` or :ref:`Gene`,
Expand All @@ -226,21 +211,28 @@ $defs:
default: "CopyNumberCount"
description: >-
MUST be "CopyNumberCount"
location:
oneOf:
- $ref: "/ga4gh/schema/gks-core/1.x/json/iriReference"
- $ref: "#/$defs/Location"
description: >-
The location of the subject of the copy count.
copies:
oneOf:
- type: integer
- $ref: "#/$defs/Range"
description: >-
The integral number of copies of the subject in a system
required: [ "copies" ]
required: [ "location", "copies" ]

CopyNumberChange:
maturity: draft
ga4ghDigest:
keys:
- location
- copyChange
prefix: CX
inherits: CopyNumber
inherits: SystemicVariation
type: object
description: >-
An assessment of the copy number of a :ref:`Location` or a :ref:`Gene` within a system (e.g. genome, cell,
Expand All @@ -252,13 +244,19 @@ $defs:
default: "CopyNumberChange"
description: >-
MUST be "CopyNumberChange"
location:
oneOf:
- $ref: "/ga4gh/schema/gks-core/1.x/json/iriReference"
- $ref: "#/$defs/Location"
description: >-
The location of the subject of the copy change.
copyChange:
$ref: "/ga4gh/schema/gks-core/1.x/json/Coding"
description: >-
MUST be a :ref:`Coding` representing one of "EFO:0030069" (complete genomic loss), "EFO:0020073" (high-level loss),
"EFO:0030068" (low-level loss), "EFO:0030067" (loss), "EFO:0030064" (regional base ploidy),
"EFO:0030070" (gain), "EFO:0030071" (low-level gain), "EFO:0030072" (high-level gain).
required: [ "copyChange" ]
required: [ "location", "copyChange" ]

# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# Locations
Expand Down
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