large2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 18

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Number of Variants: 18

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	LARGE2, FAUP4, 2031 more genes
nsv3922177	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 35,663,578-46,959,820 , GRCh37 chr11: 35,685,126-46,981,371 , NCBI36 chr11: 35,641,702-46,937,947	LARGE2, MIR3160-2, 122 more genes
nsv3913842	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 39,200,802-49,157,287 , NCBI36 chr11: 39,157,378-49,113,863 , GRCh38 chr11: 39,179,252-49,135,735	LARGE2, MIR3160-1, 162 more genes
nsv3924778	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 41,118,322-48,643,003 , GRCh37 chr11: 41,139,872-48,664,555 , NCBI36 chr11: 41,096,448-48,621,131	LARGE2, F2, 140 more genes
nsv6291196	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 40,117,145-46,920,718 , GRCh38.p12 chr11: 40,095,595-46,899,167	LARGE2, LINC02687, 86 more genes
nsv3921841	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr11: 42,531,785-46,092,919 , GRCh37 chr11: 42,575,209-46,136,343 , GRCh38 chr11: 42,553,659-46,114,792	LARGE2, PEX16, 51 more genes
nsv3919271	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 44,136,593-46,121,139 , NCBI36 chr11: 44,114,719-46,099,266 , GRCh37 chr11: 44,158,143-46,142,690	LARGE2, LOC105376646, 31 more genes
nsv6309196	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 45,827,353-46,401,497 , GRCh38.p12 chr11: 45,805,802-46,379,947	LARGE2, LINC02710, 14 more genes
nsv997191	copy number variation	1	nstd45	human	Pathogenic	GRCh37 chr11: 43,894,800-46,152,450 , GRCh38.p12 chr11: 43,873,250-46,130,899	LARGE2, CRY2, 39 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	LARGE2, 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	LARGE2, 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	LARGE2, 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	LARGE2, 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	LARGE2, TRR-TCT3-2, 494 more genes
nsv5380725	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr11: 45,827,353-47,804,770 , GRCh38.p12 chr11: 45,805,802-47,783,218	LARGE2, MIR4688, 58 more genes
nsv3914563	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr11: 42,705,681-49,113,863 , GRCh37 chr11: 42,749,105-49,157,287 , GRCh38 chr11: 42,727,555-49,135,735	LARGE2, ACP2, 143 more genes
nsv4729649	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 44,266,593-46,123,796 , GRCh38.p12 chr11: 44,245,043-46,102,245	LARGE2, LOC105376654, 31 more genes
nsv3907541	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 45,229,091-46,342,834 , GRCh38.p12 chr11: 45,207,540-46,321,284	LARGE2, FBLIM1P2, 24 more genes

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