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Items: 1 to 20 of 289

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096586copy number variation1nstd102humanUncertain significance GRCh37 chr2: 171,675,102-174,232,392 , GRCh38.p12 chr2: 170,818,592-173,367,664 RNU6-182P, DCAF17, 36 more genes
    nsv6691231copy number variation1nstd229human GRCh38 chr2: 171,687,044-171,705,766 , GRCh37.p13 chr2: 172,543,554-172,562,276 DYNC1I2
    nsv6687021copy number variation1nstd229human GRCh38 chr2: 171,715,101-171,724,200 , GRCh37.p13 chr2: 172,571,611-172,580,710 DYNC1I2
    nsv6684795copy number variation1nstd229human GRCh38 chr2: 171,693,222-171,697,500 , GRCh37.p13 chr2: 172,549,732-172,554,010 DYNC1I2
    nsv6681541copy number variation1nstd229human GRCh38 chr2: 171,733,641-171,747,577 , GRCh37.p13 chr2: 172,590,151-172,604,087 DYNC1I2
    nsv6681227copy number variation1nstd229human GRCh38 chr2: 171,704,073-171,935,612 , GRCh37.p13 chr2: 172,560,583-172,792,124 LOC105373740, SLC25A12, 4 more genes
    nsv6627595copy number variation1nstd224human GRCh37 chr2: 172,528,095-172,608,956 , GRCh38.p12 chr2: 171,671,585-171,752,446 DYNC1I2
    nsv6550228inversion1nstd223human GRCh38 chr2: 171,738,977-171,740,066 , GRCh37.p13 chr2: 172,595,487-172,596,576 DYNC1I2
    nsv6546715inversion1nstd223human GRCh38 chr2: 171,697,031-171,697,604 , GRCh37.p13 chr2: 172,553,541-172,554,114 DYNC1I2
    nsv6543556inversion1nstd223human GRCh38 chr2: 171,741,768-171,742,220 , GRCh37.p13 chr2: 172,598,278-172,598,730 DYNC1I2
    nsv6542707inversion1nstd223human GRCh38 chr2: 171,716,811-171,717,371 , GRCh37.p13 chr2: 172,573,321-172,573,881 DYNC1I2
    nsv6538977inversion1nstd223human GRCh38 chr2: 171,698,445-171,698,775 , GRCh37.p13 chr2: 172,554,955-172,555,285 DYNC1I2
    nsv6536163inversion1nstd223human GRCh38 chr2: 171,737,458-171,738,168 , GRCh37.p13 chr2: 172,593,968-172,594,678 DYNC1I2
    nsv6354965copy number variation1nstd223human GRCh38 chr2: 171,721,201-171,722,500 , GRCh37.p13 chr2: 172,577,711-172,579,010 DYNC1I2
    nsv6352551copy number variation1nstd223human GRCh38 chr2: 171,726,374-171,726,856 , GRCh37.p13 chr2: 172,582,884-172,583,366 DYNC1I2
    nsv6345635copy number variation1nstd223human GRCh38 chr2: 171,704,401-171,706,300 , GRCh37.p13 chr2: 172,560,911-172,562,810 DYNC1I2
    nsv6343050copy number variation1nstd223human GRCh38 chr2: 171,707,203-171,707,845 , GRCh37.p13 chr2: 172,563,713-172,564,355 DYNC1I2
    nsv6339020copy number variation1nstd223human GRCh38 chr2: 171,721,601-171,723,500 , GRCh37.p13 chr2: 172,578,111-172,580,010 DYNC1I2
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 EIF3EP3, FAP, 158 more genes
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