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Items: 1 to 20 of 53

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3910270copy number variation1nstd102humanPathogenic GRCh38 chr13: 18,445,862-114,327,173 , NCBI36 chr13: 10,098,739-114,110,750 , GRCh37 chr13: 19,020,001-115,085,141 GUCY1B2, RNU6-71P, 1332 more genes
    nsv3924528copy number variation1nstd102humanPathogenic GRCh37 chr13: 41,516,434-115,085,141 , GRCh38 chr13: 40,942,298-114,340,331 , NCBI36 chr13: 40,414,434-114,123,908 GUCY1B2, LOC105370271, 925 more genes
    nsv3898603copy number variation1nstd102humanPathogenic GRCh37 chr13: 42,457,841-91,796,698 , GRCh38.p12 chr13: 41,883,705-91,144,444 GUCY1B2, RNY4P30, 575 more genes
    nsv3918812copy number variation1nstd102humanPathogenic GRCh38 chr13: 44,967,523-92,738,168 , NCBI36 chr13: 44,439,658-92,188,422 , GRCh37 chr13: 45,541,658-93,390,421 GUCY1B2, SRSF1P1, 541 more genes
    nsv6314117copy number variation1nstd102humanPathogenic GRCh37 chr13: 36,376,204-80,681,753 , GRCh38.p12 chr13: 35,802,067-80,107,618 GUCY1B2, RBM26, 591 more genes
    nsv3913649copy number variation1nstd102humanPathogenic GRCh38 chr13: 41,143,820-85,137,552 , GRCh37 chr13: 41,717,956-85,711,687 , NCBI36 chr13: 40,615,956-84,609,688 GUCY1B2, RPL21P108, 539 more genes
    nsv3882264copy number variation1nstd102humanPathogenic GRCh38 chr13: 46,968,080-87,381,985 , GRCh37.p13 chr13: 47,542,215-88,034,240 GUCY1B2, ARL11, 428 more genes
    nsv4675995copy number variation1nstd102humanPathogenic GRCh37 chr13: 51,512,603-91,631,111 , GRCh38.p12 chr13: 50,938,467-90,978,857 GUCY1B2, RNU7-88P, 396 more genes
    nsv3915679copy number variation1nstd102humanPathogenic GRCh37 chr13: 31,271,865-70,046,105 , GRCh38 chr13: 30,697,728-69,471,973 , NCBI36 chr13: 30,169,865-68,944,106 GUCY1B2, CCDC70, 524 more genes
    nsv3915859copy number variation1nstd102humanPathogenic GRCh38 chr13: 47,117,587-84,300,935 , GRCh37 chr13: 47,691,722-84,875,070 , NCBI36 chr13: 46,589,723-83,773,071 GUCY1B2, LOC105370231, 406 more genes
    nsv3923911copy number variation1nstd102humanPathogenic GRCh37 chr13: 38,438,363-68,537,920 , GRCh38 chr13: 37,864,226-67,963,788 , NCBI36 chr13: 37,336,363-67,435,921 GUCY1B2, MLNR, 422 more genes
    nsv3907596copy number variation1nstd102humanPathogenic GRCh37 chr13: 32,946,120-62,698,217 , GRCh38.p12 chr13: 32,371,983-62,124,084 GUCY1B2, TPT1, 434 more genes
    nsv3915542copy number variation1nstd102humanPathogenic GRCh37 chr13: 37,351,455-63,530,009 , NCBI36 chr13: 36,249,455-62,428,010 , GRCh38 chr13: 36,777,318-62,955,876 GUCY1B2, LINC02338, 393 more genes
    nsv6290319copy number variation1nstd102humanPathogenic GRCh37 chr13: 45,819,046-63,910,212 , GRCh38.p12 chr13: 45,244,911-63,336,079 GUCY1B2, CNMD, 241 more genes
    nsv3913615copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,339,337-62,632,653 , GRCh38 chr13: 47,765,202-62,058,520 , NCBI36 chr13: 47,237,338-61,530,654 GUCY1B2, LOC105370219, 182 more genes
    nsv3923636copy number variation1nstd102humanPathogenic NCBI36 chr13: 37,986,314-50,897,351 , GRCh37 chr13: 39,088,314-51,999,350 , GRCh38 chr13: 38,514,177-51,425,214 GUCY1B2, TUSC8, 251 more genes
    nsv6314198copy number variation1nstd102humanPathogenic GRCh37 chr13: 44,573,371-53,324,137 , GRCh38.p12 chr13: 43,999,235-52,750,002 GUCY1B2, PCNPP5, 189 more genes
    nsv6315495copy number variation1nstd102humanPathogenic GRCh37 chr13: 1-115,169,878 , GRCh38.p12 chr13: 18,445,862-114,344,403 GUCY1B2, RNU6-80P, 1334 more genes
    nsv6289999copy number variation1nstd102humanPathogenic GRCh37 chr13: 1-115,169,878 , GRCh38.p12 chr13: 18,445,862-114,344,403 GUCY1B2, LINC00363, 1334 more genes
    nsv3897246copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,031,237-115,107,157 , GRCh38.p12 chr13: 18,457,097-114,341,682 GUCY1B2, NT5CP3, 1334 more genes
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