sp2[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7095170	copy number variation	2	nstd102	human	Uncertain significance, Pathogenic	GRCh37 chr17: 46,019,042-46,024,148 , GRCh38.p12 chr17: 47,941,676-47,946,782	PNPO, SP2-AS1
nsv6291347	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 117,956,263-118,037,183 , GRCh38.p12 chr11: 118,085,548-118,166,468	SMIM35, LOC105369517, 3 more genes
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	FAUP4, MMP7, 2031 more genes
nsv3911811	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577	SP2, PRPSAP1, 1350 more genes
nsv4683551	copy number variation	9	nstd102	human	Uncertain significance, Pathogenic	GRCh37 chr11: 117,856,768-118,972,385 , GRCh38.p12 chr11: 117,986,053-119,101,675	MIR6716, TREHP1, 48 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	LOC105376598, OSBPL9P2, 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	RTN3, KRTAP5-13P, 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	IGHMBP2, SYTL2, 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	PYGM, ATL3, 2125 more genes
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	SP2, MIR3185, 2366 more genes
nsv3899740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564	SP2, P4HB, 2366 more genes
nsv3906245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251	SP2, MIR21, 2366 more genes
nsv3907261	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062	SP2, SMURF2, 2366 more genes
nsv3914783	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577	SP2, LOC105371922, 1855 more genes
nsv3909511	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846	SP2, FOXK2, 958 more genes
nsv3913552	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225	SP2, RNU6-131P, 1075 more genes
nsv3922253	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 100,219,331-134,910,140 , NCBI36 chr11: 99,724,541-134,415,350 , GRCh38 chr11: 100,348,599-135,040,246	RPS27P19, UBASH3B, 655 more genes
nsv3911563	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214	SP2, PLEKHH3, 958 more genes
nsv6289927	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 104,288,964-134,937,416 , GRCh38.p12 chr11: 104,418,236-135,067,522	IGSF9B, MIR10526, 592 more genes
nsv3912905	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 112,864,326-131,189,315 , GRCh37 chr11: 112,832,130-131,059,210 , NCBI36 chr11: 112,240,259-130,564,420	SLC37A2, OR6X1, 416 more genes

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 44

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Number of Variants: 20

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