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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5942118copy number variation1nstd209human GRCh38 chr17: 74,774,804-74,775,108 , GRCh37.p13 chr17: 72,770,943-72,771,247 NAT9, TMEM104
    nsv5422263mobile element insertion1nstd206human GRCh38 chr17: 74,776,798-74,776,849 , GRCh37.p13 chr17: 72,772,937-72,772,988 NAT9, TMEM104
    nsv5157499mobile element insertion1nstd203human GRCh38 chr17: 74,774,834-74,774,868 , GRCh37.p13 chr17: 72,770,973-72,771,007 NAT9, TMEM104
    nsv5029562inversion1nstd200human GRCh38 chr17: 64,441,870-75,217,767 , GRCh37.p13 chr17: 62,649,312-73,213,862 , LOC102929163, 207 more genes
    nsv4680241copy number variation1nstd189human GRCh37.p13 chr17: 71,821,655-72,788,501 , GRCh38.p12 chr17: 73,825,516-74,792,362 RPL38, NHERF1, 30 more genes
    nsv4679737copy number variation1nstd189human GRCh37.p13 chr17: 71,829,065-72,806,524 , GRCh38.p12 chr17: 73,832,926-74,810,385 RPL38, NHERF1, 29 more genes
    nsv4457646copy number variation1nstd102humanPathogenic GRCh37 chr17: 62,778,720-81,041,938 , GRCh38.p12 chr17: 64,782,602-83,084,062 LOC107985089, ARSG, 448 more genes
    nsv4350658copy number variation1nstd102humanPathogenic GRCh37 chr17: 70,720,436-73,175,266 , GRCh38.p12 chr17: 72,724,297-75,179,171 HID1-AS1, CDR2L, 67 more genes
    nsv4257159copy number variation1nstd166human GRCh37.p13 chr17: 72,772,000-72,777,000 , GRCh38.p12 chr17: 74,775,861-74,780,861 NAT9, TMEM104
    nsv4255369copy number variation1nstd166human GRCh37.p13 chr17: 72,384,657-72,767,296 , GRCh38.p12 chr17: 74,388,518-74,771,157 CD300LD-AS1, CD300C, 16 more genes
    nsv3972399copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 64,159,738-74,891,024 , GRCh38.p12 chr17: 66,163,620-76,894,942 AANAT, ACOX1, 243 more genes
    nsv3919156copy number variation1nstd102humanPathogenic GRCh38 chr17: 69,916,435-83,102,552 , GRCh37 chr17: 67,912,576-81,048,189 , NCBI36 chr17: 65,424,171-78,653,717 CD300A, RNF213, 359 more genes
    nsv3917654copy number variation1nstd102humanPathogenic NCBI36 chr17: 64,716,815-78,637,842 , GRCh37 chr17: 67,205,220-81,044,553 , GRCh38 chr17: 69,209,079-83,086,677 LOC101928447, GRB2, 368 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
    nsv3909523copy number variation1nstd102humanPathogenic GRCh37 chr17: 63,689,671-81,041,938 , GRCh38.p12 chr17: 65,693,553-83,084,062 RPL38, RNF157-AS1, 428 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
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