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Items: 1 to 20 of 124

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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
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4269957copy number variation1nstd166human GRCh37.p13 chr17: 48,930,000-48,954,000 , GRCh38.p12 chr17: 50,852,639-50,876,639 TOB1-AS1, TOB1
    nsv4259752copy number variation1nstd166human GRCh37.p13 chr17: 48,941,000-48,946,000 , GRCh38.p12 chr17: 50,863,639-50,868,639 TOB1-AS1, TOB1
    nsv3920880copy number variation1nstd102humanPathogenic GRCh38 chr17: 49,974,533-56,807,609 , NCBI36 chr17: 45,406,896-52,239,969 , GRCh37 chr17: 48,051,897-54,884,970 LOC107984983, LOC102724732, 85 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
    nsv3912763copy number variation1nstd102humanPathogenic NCBI36 chr17: 44,570,225-47,580,169 , GRCh37 chr17: 47,215,226-50,225,170 , GRCh38 chr17: 49,137,864-52,147,810 CACNA1G, SUMO2P7, 77 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
    nsv3890215copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 46,481,089-51,396,368 , GRCh38.p12 chr17: 48,403,727-53,319,007 ATP5MC1, CHAD, 124 more genes
    nsv3168705inversion1nstd158human GRCh37 chr17: 47,900,381-50,314,234 , GRCh38.p12 chr17: 49,823,019-52,236,874 , CHAD, 57 more genes
    esv4010366copy number variation1estd233human GRCh37 chr17: 48,852,000-49,051,000 , GRCh38.p12 chr17: 50,774,639-50,973,639 SPAG9, TOB1, 4 more genes
    nsv1879197short tandem repeat2nstd128human GRCh37 chr17: 48,946,221-48,946,254 , GRCh38.p12 chr17: 50,868,860-50,868,893 TOB1-AS1
    nsv1879196short tandem repeat6nstd128human GRCh37 chr17: 48,945,507-48,945,521 , GRCh38.p12 chr17: 50,868,146-50,868,160 TOB1, TOB1-AS1
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