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. 2014 Aug 23;6(1):34. doi: 10.1186/1866-1955-6-34

Table 1.

Summary of de novo and rare inherited CNVs of interest in ASD probands

Sample ID Cytoband Coordinates (hg19) Type of CNV Genes affected Inheritance
683-3 (female)
2q37.1
Chr2: 233,651,280-233,673,273
22-kb deletion
GIGYF2
De novo
527-3 (male)
4q28.1
Chr4: 124,063,146-125,045,116
982-kb duplication
SPRY1, SPATA5
De novo
517-3 (female)
16p13.3
Chr16: 843,861-1,162,728
319-kb duplication
7 genes
De novo
16p13.3
Chr16: 2,088,391-2,415,016
327-kb duplication
15 genes
De novo
503-3 (male)
16p11.2
Chr16: 28,819,029-29,051,191
232-kb deletion
9 genes
De novo
692-3 (male)
17p13.3, 17p13.2
Chr17: 2,455,643-3,449,869
994-kb duplication
16 genes
De novo
567-3 (male)
Xp21.1
ChrX: 31,805,650-31,959,887
154-kb deletion
DMD
De novo
611-3 (male)
Xp21.1
ChrX: 32,548,066-32,603,018
55-kb deletion
DMD
De novo
552-3 (male)
Xq13.2
ChrX: 72,319,907-72,353,391
33-kb deletion
NAP1L6
De novo
694-3 (male)
4q22.2
Chr4: 94,144,621-94,172,410
28-kb deletion
GRID2
Maternal
9p21.1
Chr9: 28,491,679-28,630,598
139-kb deletion
LINGO2 (intronic)
Paternal
511-3 (male)
9p21.1
Chr9: 28,464,218-28,596,286
132-kb deletion
LINGO2
Maternal
686-3 (male) 10p12.33 Chr10: 18,240,592-18,313,842 73-kb deletion SLC39A12 Paternal

All CNVs shown above have been confirmed via qPCR or a targeted TaqMan assay, and de novo status and inheritance was verified by testing both parental samples using these same methods.

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