dbVar for OMIM (Select 601626) - dbVar

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Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5381308	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr21: 36,400,658-36,972,948 , GRCh38.p12 chr21: 35,028,361-35,600,650	RUNX1, RPL34P3, 3 more genes
nsv5381227	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr21: 36,389,492-37,056,053 , GRCh38.p12 chr21: 35,017,195-35,683,755	RUNX1, RPL34P3, 3 more genes
nsv5381195	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 33,532,300-33,793,320 , GRCh38.p12 chr19: 33,041,394-33,302,414	CEBPA-DT, WDR88, 6 more genes
nsv4684188	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 33,792,329-33,792,330 , GRCh38 chr19: 33,301,423-33,301,424	CEBPA, CEBPA-DT
nsv4578541	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 33,792,369-33,792,370 , GRCh38 chr19: 33,301,463-33,301,464	CEBPA, CEBPA-DT
nsv4454289	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr19: 33,301,328-33,302,424 , GRCh37 chr19: 33,792,234-33,793,330	CEBPA-DT, CEBPA
nsv1398076	copy number variation	4	nstd102	human	Likely pathogenic	GRCh37 chr14: 96,163,103-96,857,129 , GRCh38 chr14: 95,696,766-96,390,792	BDKRB1, BDKRB2, 10 more genes

dbVar