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Items: 1 to 20 of 196

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137094copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 44,949,883-46,507,482 , GRCh38.p12 chr17: 46,872,517-48,430,120 CDC27, ITGB3, 49 more genes
    nsv7064488inversion1nstd229human GRCh38 chr17: 48,035,347-48,037,939 , GRCh37.p13 chr17: 46,112,713-46,115,301 COPZ2, MIR152
    nsv6997502copy number variation1nstd229human GRCh38 chr17: 48,027,993-48,038,648 , GRCh37.p13 chr17: 46,105,359-46,116,010 COPZ2, MIR152, 1 more genes
    nsv6991089copy number variation1nstd229human GRCh38 chr17: 48,029,544-48,029,577 , GRCh37.p13 chr17: 46,106,910-46,106,943 COPZ2
    nsv6250830mobile element insertion1nstd215human GRCh38 chr17: 48,044,427-48,044,427 , GRCh37.p13 chr17: 46,121,789-46,121,789 COPZ2
    nsv6145687copy number variation1nstd206human GRCh38 chr17: 47,877,980-48,047,980 , GRCh37.p13 chr17: 45,955,346-46,125,342 SP2-AS1, PNPO, 8 more genes
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5288564copy number variation1nstd204human GRCh38.p13 chr17: 47,781,201-48,222,600 , GRCh37.p13 chr17: 45,858,567-46,299,962 CDK5RAP3, NFE2L1, 20 more genes
    nsv5013774copy number variation1nstd200human GRCh38 chr17: 48,005,725-48,036,086 , GRCh37.p13 chr17: 46,083,091-46,113,452 MIR10226, MIR152, 1 more genes
    nsv4707102copy number variation1nstd195human GRCh37 chr17: 46,104,977-46,104,978 , GRCh38.p12 chr17: 48,027,611-48,027,612 COPZ2
    nsv4631296copy number variation1nstd183human GRCh37 chr17: 46,115,083-46,115,164 , GRCh38.p12 chr17: 48,037,718-48,037,802 COPZ2, MIR152
    nsv4550396insertion1nstd166human GRCh37.p13 chr17: 46,113,514-46,113,514 , GRCh38.p12 chr17: 48,036,148-48,036,148 MIR152, COPZ2
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4271854copy number variation1nstd166human GRCh37.p13 chr17: 45,913,073-46,111,423 , GRCh38.p12 chr17: 47,835,707-48,034,057 SP2-AS1, LRRC46, 9 more genes
    nsv4271023copy number variation1nstd166human GRCh37.p13 chr17: 46,123,000-46,128,000 , GRCh38.p12 chr17: 48,045,638-48,050,638 COPZ2, NFE2L1
    nsv3914783copy number variation1nstd102humanPathogenic 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 LOC105371922, GJD3, 1855 more genes
    nsv3913552copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225 RNU6-131P, ZNF652, 1075 more genes
    nsv3911811copy number variation1nstd102humanPathogenic 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 PRPSAP1, CACNG1, 1350 more genes
    nsv3911757copy number variation1nstd102humanPathogenic NCBI36 chr17: 43,419,251-44,761,758 , GRCh37 chr17: 46,064,252-47,406,759 , GRCh38 chr17: 47,986,886-49,329,397 LINC02086, RNU6-1152P, 59 more genes
    nsv3911563copy number variation1nstd102humanPathogenic NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214 PLEKHH3, CHCT1, 958 more genes
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