Other#
No change: a sequence was analysed but no variant was detected. Mosaic: the occurrence in one individual of two or more cell populations, derived from a single zygote, with different sequences. Chimeric: the occurrence in one individual of two or more cell populations, derived from different zygotes, with different sequences.
Syntax#
Syntax | sequence_identifier ":" coordinate_type "." position_or_range "=" |
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Examples |
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Explanation of Symbols | |
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Notes#
- see SVD-WG001 (no change) for the original proposal
Examples#
-
no change
- one nucleotide
NC_000023.11:g.32867908=
: a screen was performed showing nucleotideg.32867908
was a "G" as in the genomic reference sequence (the nucleotide was not changed)LRG_199t1:c.123=
: a screen was performed showing nucleotidec.123
was a "C" as in the coding DNA reference sequence (the nucleotide was not changed): NOTE: the descriptionc.123C>C
is not allowed
- several nucleotides
NC_000023.11:g.32867908_32867923=
: a screen was performed showing nucleotidesg.32867908
tog.32867923
were as in the genomic reference sequence (the nucleotides were not changed)LRG_199t1:c.123_145=
: a screen was performed showing nucleotidesc.123
toc.145
were as in the coding DNA reference sequence (the nucleotides were not changed)NM_004006.2:c.[123=;456=;789=]
: a screen was performed showing nucleotidesc.123, c.456
andc.789
(all on the same allele) were identical to the coding DNA reference (the nucleotides were not changed)
- one nucleotide
-
methylation : descriptions based on Community Consultation proposal SVD-WG005 -
NC_000011.10:g.1999904_1999946|gom
: the sequence from positiong.1999904
tog.1999946
showed a gain of methylation ("|gom") -NC_000011.10:g.1999904_1999946|lom
: the sequence from positiong.1999904
tog.1999946
showed a loss of methylation ("|lom") -NC_000011.10:g.1999904_1999946|met=
: the sequence from positiong.1999904
tog.1999946
showed normal methylation ("|met=") -
mosaicism -
LRG_199t1:c.85=/T>C
: a mosaic case where at position 85 besides the normal sequence (a T, described as "=") also chromosomes are found containing a C (c.85T>C): NOTE: irrespective of the frequency in which each nucleotide was found, the reference is always described first - chimerism
-
NM_004006.2:c.85=//T>C
: a chimeric case, i.e. the sample is a mix of cells containingc.85=
andc.85T>C
.: NOTE: irrespective of the frequency in which each nucleotide was found, the reference is always described first