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Copy Number Reference Gap Tool

Compare supplied nonclinical copy-number coordinates without inferring an allele or phenotype.

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Description

Compare supplied nonclinical copy-number coordinates without inferring an allele or phenotype.

Pharmacogenomic records distinguish allele labels, copy counts, reference-sequence versions, coordinate systems, and evidence about chromosome phase. A balanced count or matching token can check a record without establishing the underlying genotype. Supplied activity values and interpretation rules remain separate from a current gene-specific clinical guideline.

Compare supplied nonclinical copy-number coordinates without inferring an allele or phenotype.

When to use this tool

Use Copy Number Reference Gap when you need this specific allele-token, reference-coordinate, copy-budget, or source-support check.

How to use the tool and how it works

  1. Enter suppliedCopyNumber, referenceCopyNumber. Use the units and conventions below.
  2. Run the tool. Correct any format, range, or cross-field input error before interpreting the output.
  3. Read gap. Use the output convention below.

For nonnegative suppliedCopyNumber and referenceCopyNumber return gap=suppliedCopyNumber-referenceCopyNumber.1

Input fieldMeaning and unitsAccepted input
suppliedCopyNumberNonnegative supplied copy-number estimate; fractional values permitted.Required. Finite number; minimum 0.
referenceCopyNumberReference Copy NumberRequired. Finite number; minimum 0.
Output fieldInterpretationReturned shape
gapSigned difference under the formula stated above.Required. Finite number.
json
{
  "input": {
    "suppliedCopyNumber": 3,
    "referenceCopyNumber": 2
  },
  "output": {
    "gap": 1
  }
}

Limitations and assumptions

  • Fractional copy-number estimates are accepted. No assay normalization, uncertainty, gene-specific ploidy rule, structural-variant interpretation, or phenotype is calculated.
  • Inputs must satisfy both the field types and the cross-field conditions above. Invalid input causes an error; a successful false flag or documented placeholder is a different result.
  • Numeric calculations use binary floating point unless exact decimal-integer arithmetic is explicitly stated. No hidden measurement tolerance or decimal rounding is added; nonfinite or out-of-contract results are rejected. Signed zero is exported as zero.

Alternative or Complementary methods

Use a current gene-specific nomenclature and a validated interpretation process when allele identity, phase, function, or clinical decisions matter. Verify source versions and reference coordinates before combining records.

References

  1. Calculation and input contract: pharmacogenomics/copy-number-reference-gap — tool.io

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