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False het SNV at chr21_MATERNAL:11543767 #661

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nhansen opened this issue Dec 6, 2023 · 0 comments
Open
1 task done

False het SNV at chr21_MATERNAL:11543767 #661

nhansen opened this issue Dec 6, 2023 · 0 comments
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small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly

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nhansen commented Dec 6, 2023

Have you confirmed that this issue hasn't already been reported?

  • I have confirmed in the UCSC browser hub that this is a new issue (required)

Issue location in assembly

chr21_MATERNAL:11543767

Description of the issue

Long read alignments suggest this position is actually a G, rather than an A:
image
In addition, the incorrect current sequence for the maternal haplotype produced a paternal hapmer, as seen here:
image
@nhansen nhansen added v1.0 This is an issue/error in the hg002v1.0 assembly small_error This error spans fewer than 50 bases in the assembly labels Dec 6, 2023
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small_error This error spans fewer than 50 bases in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
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