Skip to main content

Table 1 Genomic positions of variants identified in the SNP array and CNV-seq processed proband sample. Genomics coordinates are reported for human genome build hg19

From: Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder

Karyotype SNP array positions CNV-seq window boundaries Prediction Inherited from
Start Stop Size (Mb) Start Stop Size (Mb)
11p duplication N/A N/A N/A 38,940,000 39,080,000 0.14 Uncertain significance Mother
13q duplication 47,596,020 48,636,586 1.04 47,740,000 48,640,000 0.9 Uncertain significance Father
15q duplication 20,161,372 32,370,069 12.2 (1) 20,180,000 (1) 30,340,000 (1) 10.16 Pathogenic De novo
(2) 30,340,000 (2) 32,180,000 (2) 1.84 Pathogenic De novo
16p duplication N/A N/A N/A 32,500,000 32,660,000 0.16 benign De novo
18p duplication 7,070,642 7,573,510 0.5 7,060,000 7,560,000 0.5 benign Father
  1. Mb Megabase; N/A not applied
Back to article page

Molecular Cytogenetics

ISSN: 1755-8166