dbVar for OMIM (Select 232300) - dbVar - NCBI

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Items: 13

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Number of Variants: 13

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5673056	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,091,972-78,092,176 , GRCh38.p12 chr17: 80,118,173-80,118,377	GAA
nsv5673025	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 80,111,484-80,118,677 , GRCh37 chr17: 78,085,283-78,092,476	GAA
nsv5672957	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 80,108,677-80,116,950 , GRCh37 chr17: 78,082,476-78,090,749	GAA
nsv5381184	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 78,090,757-78,093,140 , GRCh38.p12 chr17: 80,116,958-80,119,341	GAA
nsv4682950	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,082,476-78,087,185 , GRCh38.p12 chr17: 80,108,677-80,113,386	GAA
nsv4681544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,083,734-78,087,175 , GRCh38.p12 chr17: 80,109,935-80,113,376	GAA
nsv4578594	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 80,104,729-80,107,784 , GRCh37 chr17: 78,078,528-78,081,583	GAA
nsv4453640	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,091,982-78,092,166 , GRCh38 chr17: 80,118,183-80,118,367	GAA
nsv4452325	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 78,078,341-78,093,140 , GRCh38 chr17: 80,104,542-80,119,341	GAA
nsv3887803	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr17: 80,104,542-80,119,351 , GRCh37 chr17: 78,078,341-78,093,150	GAA
nsv3885306	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,091,992-78,092,156 , GRCh38 chr17: 80,118,193-80,118,357	GAA
nsv3876819	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 80,104,542-80,105,914 , GRCh37 chr17: 78,078,341-78,079,713	GAA
nsv3873965	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 78,081,336-78,087,185 , GRCh38 chr17: 80,107,537-80,113,386	GAA

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