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Items: 1 to 20 of 264

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7139182insertion1nstd232human GRCh37.p13 chr1: 201,840,454-201,840,454 , GRCh38.p12 chr1: 201,871,326-201,871,326 IPO9
    nsv7099255copy number variation1nstd231human GRCh38.p12 chr1: 192,358,641-201,911,882 , GRCh37 chr1: 192,327,771-201,881,010 CACNA1S, CSRP1, 120 more genes
    nsv7095955copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,522,516-206,945,780 , GRCh38.p12 chr1: 200,553,388-206,772,435 ELF3, MAPKAPK2, 189 more genes
    nsv7095569copy number variation2nstd102humanUncertain significance GRCh37 chr1: 200,522,516-208,391,267 , GRCh38.p12 chr1: 200,553,388-208,217,922 TRK-TTT8-1, ADIPOR1, 228 more genes
    nsv7048044inversion1nstd229human GRCh38 chr1: 200,722,696-202,712,068 , GRCh37.p13 chr1: 200,691,824-202,681,196 ARL8A, KIF21B, 52 more genes
    nsv6669767copy number variation1nstd229human GRCh38 chr1: 201,865,301-201,867,800 , GRCh37.p13 chr1: 201,834,429-201,836,928 IPO9
    nsv6664950copy number variation1nstd229human GRCh38 chr1: 201,841,515-201,846,524 , GRCh37.p13 chr1: 201,810,643-201,815,652 IPO9
    nsv6660838copy number variation1nstd229human GRCh38 chr1: 201,878,104-201,880,545 , GRCh37.p13 chr1: 201,847,232-201,849,673 IPO9
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6552521inversion1nstd223human GRCh38 chr1: 201,856,949-201,857,499 , GRCh37.p13 chr1: 201,826,077-201,826,627 IPO9
    nsv6539666inversion1nstd223human GRCh38 chr1: 201,865,802-201,866,242 , GRCh37.p13 chr1: 201,834,930-201,835,370 IPO9
    nsv6316161copy number variation1nstd223human GRCh38 chr1: 201,861,069-201,863,150 , GRCh37.p13 chr1: 201,830,197-201,832,278 MIR6739, IPO9
    nsv6299798copy number variation1nstd186human GRCh37 chr1: 201,810,643-201,815,648 , GRCh38.p12 chr1: 201,841,515-201,846,520 IPO9
    nsv6258036mobile element insertion1nstd215human GRCh38 chr1: 201,863,766-201,863,766 , GRCh37.p13 chr1: 201,832,894-201,832,894 MIR6739, IPO9
    nsv6133966copy number variation1nstd213human GRCh37 chr1: 201,820,000-202,080,001 , GRCh38.p12 chr1: 201,850,872-202,110,873 SHISA4, MIR6740, 11 more genes
    nsv6133960copy number variation1nstd213human GRCh37 chr1: 196,820,000-204,810,001 , GRCh38.p12 chr1: 196,850,870-204,840,873 ELF3, NR5A2, 181 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133844copy number variation1nstd213human GRCh37 chr1: 199,820,000-202,610,001 , GRCh38.p12 chr1: 199,850,872-202,640,873 ELF3, NR5A2, 69 more genes
    nsv6133842copy number variation1nstd213human GRCh37 chr1: 196,810,000-202,980,001 , GRCh38.p12 chr1: 196,840,870-203,010,873 ELF3, NR5A2, 120 more genes
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