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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
    nsv6995858copy number variation1nstd229human GRCh38 chr17: 42,485,001-42,494,400 , GRCh37.p13 chr17: 40,637,019-40,646,418 ATP6V0A1, MIR548AT
    nsv6990921copy number variation1nstd229human GRCh38 chr17: 42,497,028-42,498,554 , GRCh37.p13 chr17: 40,649,046-40,650,572 ATP6V0A1
    nsv6988095copy number variation1nstd229human GRCh38 chr17: 42,505,458-42,505,592 , GRCh37.p13 chr17: 40,657,476-40,657,610 ATP6V0A1
    nsv6987158copy number variation1nstd229human GRCh38 chr17: 42,501,925-42,517,172 , GRCh37.p13 chr17: 40,653,943-40,669,190 MIR5010, ATP6V0A1
    nsv6986626copy number variation1nstd229human GRCh38 chr17: 42,422,850-42,633,538 , GRCh37.p13 chr17: 40,574,868-40,785,556 HSD17B1P1, TUBG1, 14 more genes
    nsv6985221copy number variation1nstd229human GRCh38 chr17: 42,419,782-42,607,109 , GRCh37.p13 chr17: 40,571,800-40,759,127 COASY, LOC102725238, 13 more genes
    nsv6984984copy number variation1nstd229human GRCh38 chr17: 38,377,708-42,855,253 , GRCh37.p13 chr17: 36,701,616-41,007,270 ZNF385C, AOC2, 248 more genes
    nsv6983285copy number variation1nstd229human GRCh38 chr17: 42,513,147-42,513,656 , GRCh37.p13 chr17: 40,665,165-40,665,674 ATP6V0A1, MIR5010
    nsv6982861copy number variation1nstd229human GRCh38 chr17: 38,291,672-47,498,259 , GRCh37.p13 chr17: 36,510,266-45,575,625 KRT20, PLEKHH3, 442 more genes
    nsv6592909inversion1nstd223human GRCh38 chr17: 42,471,134-42,472,060 , GRCh37.p13 chr17: 40,623,152-40,624,078 ATP6V0A1
    nsv6590945inversion1nstd223human GRCh38 chr17: 42,469,434-42,471,277 , GRCh37.p13 chr17: 40,621,452-40,623,295 ATP6V0A1
    nsv6585919inversion1nstd223human GRCh38 chr17: 42,501,476-42,501,980 , GRCh37.p13 chr17: 40,653,494-40,653,998 ATP6V0A1
    nsv6582774inversion1nstd223human GRCh38 chr17: 42,491,519-42,492,324 , GRCh37.p13 chr17: 40,643,537-40,644,342 ATP6V0A1
    nsv6577980inversion1nstd223human GRCh38 chr17: 42,461,678-42,462,561 , GRCh37.p13 chr17: 40,613,696-40,614,579 ATP6V0A1
    nsv6510821copy number variation1nstd223human GRCh38 chr17: 42,505,400-42,505,534 , GRCh37.p13 chr17: 40,657,418-40,657,552 ATP6V0A1
    nsv6506980copy number variation1nstd223human GRCh38 chr17: 42,486,281-42,486,936 , GRCh37.p13 chr17: 40,638,299-40,638,954 ATP6V0A1
    nsv6506611copy number variation1nstd223human GRCh38 chr17: 42,481,388-42,482,008 , GRCh37.p13 chr17: 40,633,406-40,634,026 ATP6V0A1
    nsv6504724copy number variation1nstd223human GRCh38 chr17: 42,450,765-42,466,904 , GRCh37.p13 chr17: 40,602,783-40,618,922 ATP6V0A1
    nsv6315278copy number variation1nstd102humanPathogenic GRCh37 chr17: 40,599,557-40,649,783 , GRCh38.p12 chr17: 42,447,539-42,497,765 ATP6V0A1, MIR548AT
    nsv6250803mobile element insertion1nstd215human GRCh38 chr17: 42,501,187-42,501,187 , GRCh37.p13 chr17: 40,653,205-40,653,205 ATP6V0A1
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