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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5016619copy number variation1nstd200human GRCh38 chr17: 47,700,187-47,700,307 , GRCh37.p13 chr17: 45,777,553-45,777,673 TBKBP1
    nsv5016618copy number variation1nstd200human GRCh38 chr17: 47,695,602-47,695,680 , GRCh37.p13 chr17: 45,772,968-45,773,046 TBKBP1
    nsv4867184copy number variation1nstd200human GRCh37 chr17: 45,777,553-45,777,673 , GRCh38.p12 chr17: 47,700,187-47,700,307 TBKBP1
    nsv4436018complex substitution1nstd102humanUncertain significance GRCh37 chr17: 45,008,570-45,994,044 , GRCh38.p12 chr17: 46,931,204-47,916,678 CDC27, ITGB3, 30 more genes
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4269078copy number variation1nstd166human GRCh37.p13 chr17: 45,777,553-45,777,673 , GRCh38.p12 chr17: 47,700,187-47,700,307 TBKBP1
    nsv4268894copy number variation1nstd166human GRCh37.p13 chr17: 45,772,968-45,773,046 , GRCh38.p12 chr17: 47,695,602-47,695,680 TBKBP1
    nsv3919205copy number variation1nstd102humanUncertain significance NCBI36 chr17: 43,118,852-43,419,326 , GRCh37 chr17: 45,763,853-46,064,327 , GRCh38 chr17: 47,686,487-47,986,961 TBKBP1, OSBPL7, 11 more genes
    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
    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
    nsv3909511copy number variation1nstd102humanPathogenic GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846 FOXK2, SOCS3-DT, 958 more genes
    nsv3907261copy number variation2nstd102humanPathogenic GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062 SMURF2, LOC112268199, 2366 more genes
    nsv3906245copy number variation1nstd102humanPathogenic GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251 MIR21, LOC105371899, 2366 more genes
    nsv3903684copy number variation1nstd102humanPathogenic GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004 MIR3185, YWHAEP6, 2366 more genes
    nsv3899740copy number variation1nstd102humanPathogenic GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564 P4HB, LOC105371808, 2366 more genes
    nsv3163094copy number variation1nstd151human GRCh37 chr17: 45,773,477-45,777,066 , GRCh38.p12 chr17: 47,696,111-47,699,700 TBKBP1
    esv4010347copy number variation1estd233human GRCh37 chr17: 45,235,000-45,810,000 , GRCh38.p12 chr17: 47,157,634-47,732,634 CDC27, ITGB3, 14 more genes
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