Research Article

Characteristics of Highly Polymorphic Segmental Copy-Number Variations Observed in Japanese by BAC-Array-CGH

Table 2

Genes or disease gene (OMIM*) in BAC clones with highly polymorphic CNVs.

Clone numberGenesOMIM

RP11-89B17CCDC74A, AC093838, POTEK
RP11-88L18AC106774
RP11-90A9ANKRD34B, DHFR, SSU_rRNA_5, AC008434, MSH3(i) DIHYDROFOLATE REDUCTASE; DHFR (ii) MutS
RP1-299C21
RP11-89B15MEOX2, AC005550
RP11-90G23REXO1L2P, AC232323
RP11-95J4
RP11-100C24PRR20A, PRR20B,
PRR20C, PRR20D, PRR20E
RP11-115G22CHRNA7 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7;
CHRNA7
RP11-79O18NSF, WNT3 WINGLESS-TYPE MMTV
INTEGRATION SITE FAMILY,
MEMBER 3; WNT3
RP11-79F15ZNF558, MBD3L1, AC008734
RP11-259N12AMY1A, AMY1B, AMY1C, AMY2A
RP11-121A8STARD3NL, AC006033, TRGC2, TRGJ2, TRGJP2, TRGC1, TRGJ1, TRGJP, TRGJP1, TRGV11, TRGVB, TRGV10, TRGV9, TRGVA, TRGV8, TRGV7, TRGV6, TRGV5P, TRGV5
RP11-11M9
RP11-231J7GRIA2
CTD-2100E13RIOK3, C18orf8, NPC1, ANKRD29 NPC1 GENE; NPC1

OMIM: Online Mendelian Inheritance in Man.