Confusing allele notation for SNP data
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6.8 years ago
m98 ▴ 420

I am working on some imputed data and one of the SNPs I am interested in shows up after imputation as:

name position alleles
22:39359355:C:<cn0>:39379392 39359355 C CN0

I am confused as to what C CNO means. Is this a CNV or an indel?

Thanks

SNP • 1.4k views
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Might be important to specify how you did the imputation. Try to be as informative as possible.

Anyways, given that you copied this correctly this is CN0 (zero) not CNO.

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My apologies.

This SNP has indeed been imputed using Phase3 1000 Genomes data and the software IMPUTE2. To me this SNP appears to be a CNV and the nomenclature means that one allele is 0 and the other is <cn0>, whatever this means. I am just quite confused because this SNP doesn't appear to be a CNV according to dbSNP, but rather an actual single nucleotide variant. https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=868638441

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