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Items: 1 to 20 of 168

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099251copy number variation1nstd231human GRCh38.p12 chr1: 177,558,975-179,087,722 , GRCh37 chr1: 177,528,110-179,056,857 ANGPTL1, RASAL2, 24 more genes
    nsv7053017inversion1nstd229human GRCh38 chr1: 177,759,800-179,689,836 , GRCh37.p13 chr1: 177,728,935-179,658,971 LOC105371630, TEX35, 39 more genes
    nsv7050782inversion1nstd229human GRCh38 chr1: 178,302,511-179,603,198 , GRCh37.p13 chr1: 178,271,646-179,572,333 PTPN2P1, MEF2AP1, 33 more genes
    nsv7044079inversion1nstd229human GRCh38 chr1: 174,711,171-179,623,233 , GRCh37.p13 chr1: 174,680,309-179,592,368 LOC100420262, RNU6-307P, 71 more genes
    nsv6645419copy number variation1nstd229human GRCh38 chr1: 178,502,477-178,530,295 , GRCh37.p13 chr1: 178,471,612-178,499,430 TEX35, LOC105371631, 1 more genes
    nsv6645417copy number variation1nstd229human GRCh38 chr1: 178,480,001-178,556,300 , GRCh37.p13 chr1: 178,449,136-178,525,435 TEX35, LOC105371631, 4 more genes
    nsv6645326copy number variation1nstd229human GRCh38 chr1: 178,512,901-178,516,500 , GRCh37.p13 chr1: 178,482,036-178,485,635 LOC101928866, TEX35
    nsv6321584copy number variation1nstd223human GRCh38 chr1: 178,512,865-178,516,436 , GRCh37.p13 chr1: 178,482,000-178,485,571 LOC101928866, TEX35
    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
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133835copy number variation1nstd213human GRCh37 chr1: 177,040,000-182,410,001 , GRCh38.p12 chr1: 177,070,864-182,440,866 VDAC1P4, RASAL2, 92 more genes
    nsv6133573copy number variation1nstd213human GRCh37 chr1: 173,820,000-189,960,001 , GRCh38.p12 chr1: 173,850,862-189,990,871 ABL2, ASTN1, 235 more genes
    nsv5430977copy number variation1nstd206human GRCh38 chr1: 178,514,439-178,514,497 , GRCh37.p13 chr1: 178,483,574-178,483,632 TEX35
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728270copy number variation1nstd102humanUncertain significance GRCh37 chr1: 174,410,914-178,743,636 , GRCh38.p12 chr1: 174,441,776-178,774,501 LINC01741, MRPS14, 52 more genes
    nsv4728231copy number variation1nstd102humanPathogenic GRCh37 chr1: 173,162,501-182,702,252 , GRCh38.p12 chr1: 173,193,362-182,733,117 KIAA1614, STX6, 166 more genes
    nsv4673925copy number variation1nstd102humanPathogenic GRCh37 chr1: 177,551,193-199,599,056 , GRCh38.p12 chr1: 177,582,058-199,629,928 QSOX1, PTPRC, 263 more genes
    nsv4594102copy number variation1nstd183human GRCh37 chr1: 178,449,096-178,481,285 , GRCh38.p12 chr1: 178,479,961-178,512,150 LOC101928866, TEX35, 1 more genes
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