Genomic copy number variation in Mus musculus

BMC Genomics

Table 3 Most common CNVs and complex^a CNV regions

Genomic location	Region type	Number of mice affected^b	Gene symbol (gene type)^c
17:6635443-6646618	CNV	66	Tmem181c-ps (ps)
14:44540155-44579921	CNV	43	Ang5 (pc), Ear-ps7 (ps), Ear-ps10 (ps), Ang6 (pc)
17:35383895-35392718	CNV	41	Ddx39b (pc), SNORD83 (snoRNA), CR974466.1 (miRNA)
11:116603748-116629092	CNV	40	St6galnac1 (pc), Gm11735 (ps)
4:122366514-122382286	CNV	38	9530002B09Rik (pc)
7:111681502-111683670	CNV	35	Trim30e-ps1 (ps)
4:111790559-111972640	CNV	35	Skint4 (pc), Gm12820 (ps), Gm12815 (ps), Skint3 (pc)
17:30593663-31058945^d	CNV	34	Btbd9 (pc), Gm9874 (pc), Glo1 (pc), Dnahc8 (pc)
5:114856193-114895051	CNV	34	Ube3b (pc), Mmab (pc), Mvk (pc)
14:20443929-20587951	CNV	34	Gm17030 (ps), Nid2 (pc)
17:30508869-31058945^d	Complex	216	Gm9874 (pc), U6 (snRNA), Glo1 (pc), Dnahc8 (pc), Glp1r (pc), Btbd9 (pc)
1:90097201-90210184	Complex	130	Dnajb3 (pc), Ugt1a5 (pc), Ugt1a2 (pc), Ugt1a1 (pc), Heatr7b1 (pc), Hjurp (pc), Ugt1a10 (pc), Ugt1a9 (pc), Ugt1a8 (pc), Ugt1a7c (pc), Ugt1a6a (pc), Ugt1a6b (pc), Trpm8 (pc)
11: 70955732-71137889	Complex	152	SNORA17 (snoRNA), SNORA17 (snoRNA), Nlrp1a (pc), Nlrp1b (pc), Nlrp1c-ps (ps)

^a A complex region is defined as having boundary concordance below 0.75 as described in Cahan [7]. CNV events have exact boundary concordance
^b For CNV events, each mouse with the CNV is counted. In complex regions, a mouse is counted if they have any CNVs in this region and are not counted twice if more than one CNV in this region is present
^c Gene names are as in Mouse Genome Informatics Symbol. Gene types are one of: Protein coding (pc), RNA type as listed, or pseudogene (ps)
^d This CNV event is contained within this complex region

ISSN: 1471-2164