Copy Number Switches

Count copy-number state switches as an oscillation feature, not a chromothripsis diagnosis.

Description

Copy-number state changes provide an oscillation feature along ordered segments.

Copy-number state changes provide an oscillation feature along ordered segments. Alternation between two states is descriptive evidence, not a diagnosis.

Count copy-number state switches as an oscillation feature, not a chromothripsis diagnosis.

When to use Copy Number Switches

Use this for the following task: Count copy-number state switches as an oscillation feature, not a chromothripsis diagnosis.

Prepare the caller-filtered sequences, counts, coordinates or annotations requested below. Keep identifiers and paired lists aligned on the same reference.

How to use Copy Number Switches and understand its results

  1. Prepare the caller-filtered sequences, counts, coordinates or annotations requested below. Keep identifiers and paired lists aligned on the same reference.
  2. Enter copyNumberStates using the field table, then run the tool.
  3. Read switchCount, distinctStates, twoStateOscillation. Interpret flags, units, ordering and placeholder values using the rules below.
  4. Review any reported issue or failed check, correct the supplied values when appropriate, and verify the result in its intended context.
Input fieldMeaningValue type and boundsRequirement
copyNumberStatesCopy number stateslist of integer; minimum entries 1; maximum entries 100000; each entry: integer; minimum 0Required

Supply supported nonnegative integer states in genomic order. Count adjacent changes and distinct values, then apply the stated flag rule.1

switches = adjacent unequal states; twoStateOscillation = distinctStates == 2 AND switches ≥ 2

This summarizes the declared operation. Units, indexing, inclusivity and exceptional cases are explained in the surrounding text.

Output fieldMeaningValue type
switchCountSwitch countinteger
distinctStatesDistinct statesinteger
twoStateOscillationExactly two supplied states and at least two switches; consecutive equal states do not switch.boolean
json
{
  "input": {
    "copyNumberStates": [
      1,
      2,
      1,
      2,
      2,
      1
    ]
  },
  "output": {
    "switchCount": 4,
    "distinctStates": 2,
    "twoStateOscillation": true
  }
}

Limitations and assumptions

Repeated adjacent states are allowed. Segment sizes and breakpoints are absent, and chromothripsis is not diagnosed.

The tool operates on supplied local data; alignment, filtering and annotation must already be appropriate for the stated calculation. Malformed requests produce input errors. A successfully evaluated request can still contain false flags, empty result lists or a result outside the supplied threshold; those outcomes have the meanings stated above.

Alternative or Complementary methods

Choose Loh Segments for this operation: Merge contiguous segments meeting a supplied minor-allele copy-number LOH criterion. For a complementary task, use Genomic Scar Composite for this operation: Combine supplied LOH, telomeric imbalance, and large-transition counts with explicit weights; not a clinical HRD test.

The implementation reference documents the exact calculation, supported input shapes and returned fields.

References

  1. Copy Number Switches — tool.io

Similar or alternative tools

  • Loh Segments

    Merge contiguous segments meeting a supplied minor-allele copy-number LOH criterion.

  • Genomic Scar Composite

    Combine supplied LOH, telomeric imbalance, and large-transition counts with explicit weights; not a clinical HRD test.

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