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Human Genome Region CYP2D6

Cytogenetic location:

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Genome issues
Issue ID Status Description Resolution text
HG-1577 Resolved AC236040.3 (ABC8-740722A11) contains a possible duplication of the CYP2D6 gene and is being considered for inclusion as a GRCh37 NOVEL patch. AC236040.3 is a finished component it represents a sequence insertion of 12.1kb relative to the reference assembly and contains a duplication of CYP2D6 (NM_001025161.2). The component has been added to the ALT_REF_LOCI_2 TPF.
HG-803 Resolved Trimming of AL021878 in update from version 2 to version3 removes representation of a deletion haplotype for CYP2D6 (GeneID: 1565) AL021878.3 has been updated to AL021878.4, restoring representation of the CYP2D6 deletion allele. The deletion allele is represented in GRCh37 NOVEL PATCH GL383582.1, and will become an alt loci when GRCh38 is released. A GRCh37 anchor Z82192 has been added to the NOVEL patch.
Patches and alternate loci
Show in Viewer GenBank ID RefSeq ID Scaffold type Length Alignment mismatch Unique sequence
GL383582.2 NW_003315971.2 NOVEL 162,811 95 111
KB663609.1 NW_004504305.1 NOVEL 74,013 76 12,160

CYP2D6 -- chr22 (NC_000022.10):42,473,660-42,648,568