Copy-Number Variations Observed in a Japanese Population by BAC Array CGH: Summary of Relatively Rare CNVs

Table 2

Summary of the CNVs detected in single unrelated individuals.

Clone; number	Chrom.; number	Position; (Mb)	Delete; or Amp^(1)	Known; variant	Segmetal; duplication	Known; inheritance^(2)	Redon; [4]	Redon^(3); [4]	Park et al.; [24]	Ikeda et al.; [25]
RP5-895L2	1	231.9	Deletion	Abs^(4)	Abs^(6)	MO	Abs^(8)	Abs	Abs	Abs
RP11-204C23	3	3	Delete	Pre^(5)	Abs	FA	Abs	Abs	Abs	Abs
RP11-80D22	4	43.7	Amp	Pre	Abs	FA	Abs	Abs	Abs	Abs
RP11-22O8	4	141.1	Deletion	Abs	Abs	ND	Abs	Abs	Abs	Abs
RP11-104N13	6	165	Deletion	Pre	Abs	FA	Abs	Abs	Abs	Abs
RP11-90O18	7	63.8	Amp	Pre	Abs	FA	Abs	Abs	Abs	Abs
RP11-79I19	8	4	Delete	Pre	Abs	MO	Abs	Pre	Abs	Abs
RP11-90J21	8	8.8	Amp	Pre	Abs	FA	Abs	Abs	Abs	Abs
RP11-90M13	8	25.9	Deletion	Abs	Abs	FA	Abs	Abs	Abs	Abs
RP11-91G3	8	91.1	Deletion	Pre	Abs	ND	Pre^(9)	Pre	Abs	Abs
RP11-91H19	10	58.2	Deletion	Pre	Abs	FA	Abs	Abs	Abs	Abs
RP11-176H12	10	65.7	Amp	Pre	Abs	MO	Abs	Abs	Abs	Abs
RP11-18B9	11	40.3	Delete	Pre	Abs	MO	Abs	Abs	Abs	Abs
RP11-75H24	11	58.6	Amp	Pre	Pre^(7)	MO	Pre	Abs	Pre	Abs
RP11-90N7	12	11.4	Amp	Pre	Pre	MO	Abs	Abs	Pre	Abs
RP11-86C3	13	89	Deletion	Pre	Abs	FA	Abs	Abs	Abs	Abs
RP11-80H14	15	20.5	Amp	Pre	Abs	FA	Abs	Abs	Abs	Pre
RP11-81H5	15	44.7	Delete	Abs	Abs	MO	Abs	Abs	Pre	Abs
RP11-90E5	15	98.4	Amp	Pre	Abs	FA	Abs	Abs	Abs	Abs
RP11-79I15	16	16.6	Deletion	Pre	Pre	MO	Pre	Pre	Abs	Abs
RP11-89L6	16	75.7	Amp	Abs	Abs	MO	Abs	Abs	Abs	Abs
CTB-15E16	16	79.0	Amp	Pre	Abs	MO	Abs	Abs	Abs	Abs
RP11-265I6	18	36.1	Delete	Abs	Abs	FA	Abs	Abs	Abs	Abs
RP11-89N1	18	76.0	Amp	Pre	Abs	MO	Abs	Abs	Abs	Pre
RP5-908M14	20	60.4	Amp	Pre	Abs	MO	Pre	Abs	Pre	Abs
Remarks	Each CNV as below was detected in three individuals in different families, but two of them were detected in individuals who were not selected as an unrelated individual. Both CNVs were not identified in three other studies of Japanese
RP11-88B18	10	56.6	Deletion	Pre	Abs	ND	1 (3)
RP11-86B6	13	104	Amp	Abs	Abs	ND	1 (3)

⁽¹⁾Amplification. ⁽²⁾CNVs were inherited from the mother (MO) or the father (FA). ⁽³⁾Data from Affymetrix oligo array. CNVs absent ⁽⁴⁾or present ⁽⁵⁾in previous papers. Segmental duplication absent ⁽⁶⁾or present ⁽⁷⁾in BAC clones on which CNVs were observed. CNVs absent ⁽⁸⁾or present ⁽⁹⁾in Japanese data from three types of oligo arrays.