sp3[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
nsv3910630	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331	SP3, DAZAP2P1, 2991 more genes
nsv4451512	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647	SP3, LINC01117, 339 more genes
nsv4674757	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858	SP3, OSBPL6, 256 more genes
nsv4768307	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890	SP3, RBM45, 258 more genes
nsv3904056	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 164,821,892-183,059,789 , NCBI36 chr2: 164,530,138-182,768,034 , GRCh38 chr2: 163,965,382-182,195,062	SP3, PRKRA, 256 more genes
nsv3891673	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 172,285,743-190,044,294 , GRCh38 chr2: 171,429,233-189,179,568 , NCBI36 chr2: 171,993,989-189,752,539	SP3, LOC729141, 238 more genes
nsv3894385	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 170,972,444-186,762,866 , GRCh37 chr2: 171,264,198-187,054,621 , GRCh38 chr2: 170,407,688-186,189,894	SP3, KRT18P29, 220 more genes
nsv4454648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 173,538,954-186,401,606 , GRCh38.p12 chr2: 172,674,226-185,536,879	SP3, PDE11A, 176 more genes
nsv5381341	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634	SP3, ALDH7A1P2, 174 more genes
nsv3909452	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 165,706,627-176,423,918 , GRCh38 chr2: 164,850,117-175,559,190 , NCBI36 chr2: 165,414,873-176,132,164	SP3, LOC107985959, 141 more genes
nsv3914220	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 166,992,294-175,094,656 , GRCh37.p13 chr2: 167,284,048-175,386,410 , GRCh38.p12 chr2: 166,427,538-174,521,682	SP3, GPR155-DT, 111 more genes
nsv3888432	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 174,238,257-181,604,341 , GRCh38.p12 chr2: 173,373,529-180,739,614	SP3, LRRC2P1, 125 more genes
nsv3920257	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 173,710,846-180,977,641 , GRCh37.p13 chr2: 174,002,600-181,269,396 , GRCh38.p12 chr2: 173,137,872-180,404,669	SP3, LINC01117, 128 more genes
nsv6315016	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 171,524,396-178,694,337 , GRCh38.p12 chr2: 170,667,886-177,829,610	SP3, LOC105373746, 136 more genes
nsv3908540	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 172,077,803-178,427,053 , GRCh38 chr2: 171,513,047-177,854,080 , GRCh37 chr2: 172,369,557-178,718,807	SP3, RPS15P4, 121 more genes
nsv3892058	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 173,644,604-178,462,728 , NCBI36 chr2: 173,352,850-178,170,974 , GRCh38 chr2: 172,779,876-177,598,000	SP3, LRRC2P1, 97 more genes
nsv3874094	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 173,741,558-178,416,381 , GRCh38.p12 chr2: 172,876,830-177,551,653	SP3, LOC101929963, 97 more genes
nsv3903718	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 174,272,789-178,567,215 , NCBI36 chr2: 173,981,035-178,275,461 , GRCh38 chr2: 173,408,061-177,702,487	SP3, RPA3P1, 92 more genes
nsv3899533	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 173,231,480-177,225,915 , GRCh38 chr2: 172,366,752-176,361,187 , NCBI36 chr2: 172,939,726-176,934,161	SP3, PPIAP67, 74 more genes
nsv3908023	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 173,699,279-175,586,070 , GRCh37 chr2: 174,564,007-176,450,798 , NCBI36 chr2: 174,272,253-176,159,044	SP3, RNU6-1290P, 30 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 40

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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