DNA Recommendations

Other Variant


Definitions

Chimeric
the occurrence in one individual of two or more cell populations, derived from different zygotes, with different sequences.
Mosaic
the occurrence in one individual of two or more cell populations, derived from a single zygote, with different sequences.
No change
a sequence was analysed but no variant was detected.

Description

Format: “prefix”“position(s)_analysed””=”, e.g. g.123_234=

“prefix” = reference sequence used = g.
“position(s)_analysed” = position nucleotide or range of nucleotides analysed = 123_234
”=” = not changed


Note

  • prefix reference sequences accepted are g., m., c. and n. (genomic, mitochondrial, coding DNA and non-coding DNA).
  • see SVD-WG001 (no change) for the original proposal

Examples

  • no change
    • one nucleotide
      • NG_012232.1:g.19=
        the nucleotide at position g.19 in the genomic reference sequence NG_012232.1 was tested and found not to be changed
    • several nucleotides
      • NG_012232.1:g.19_29del
        the nucleotides from position g.19 to g.29 in the genomic reference sequence NG_012232.1 were tested and found not to be changed
  • mosaicism
  • chimerism