ssrp1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 14

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Number of Variants: 14

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5380796	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397	SSRP1, FAUP4, 2031 more genes
nsv3893233	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576	SSRP1, LOC105376598, 2842 more genes
nsv3900144	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169	SSRP1, RTN3, 2833 more genes
nsv3908873	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576	SSRP1, IGHMBP2, 2829 more genes
nsv6315537	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 32,799,481-134,938,470 , GRCh38.p12 chr11: 32,777,935-135,068,576	SSRP1, PYGM, 2125 more genes
nsv6315474	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 43,607,886-61,466,671 , GRCh38.p12 chr11: 43,586,336-61,699,199	SSRP1, TRR-TCT3-2, 494 more genes
nsv3911150	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 55,086,995-58,766,250 , NCBI36 chr11: 54,843,571-58,522,826 , GRCh38 chr11: 55,319,519-58,998,777	SSRP1, OR5BD1P, 197 more genes
nsv3910102	copy number variation	1	nstd102	human	Likely benign	NCBI36 chr11: 56,571,417-56,896,362 , GRCh37 chr11: 56,814,841-57,139,786 , GRCh38 chr11: 57,047,366-57,372,313	SSRP1, TNKS1BP1, 6 more genes
nsv3904152	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 49,313,405-59,008,426 , GRCh38.p12 chr11: 49,291,853-59,240,953	SSRP1, FAM111B, 250 more genes
nsv4453292	copy number variation	1	nstd102	human	not provided	GRCh37 chr11: 55,033,164-57,518,726 , GRCh38.p12 chr11: 55,265,688-57,751,254	SSRP1, OR8J3, 150 more genes
nsv3924646	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr11: 55,316,535-57,539,457 , GRCh37 chr11: 55,084,011-57,306,930 , NCBI36 chr11: 54,840,587-57,063,506	SSRP1, OR5AL1, 134 more genes
nsv3918615	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr11: 54,789,872-56,896,303 , GRCh37.p13 chr11: 55,033,296-57,139,727 , GRCh38.p12 chr11: 55,265,820-57,372,254	SSRP1, OR8K5, 127 more genes
nsv6637373	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 56,637,024-57,361,915 , GRCh38.p12 chr11: 56,869,548-57,594,442	SSRP1, OR5BQ1P, 27 more genes
nsv6291003	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 57,037,091-57,453,575 , GRCh38.p12 chr11: 57,269,617-57,686,103	SSRP1, PRG2, 19 more genes

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