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Items: 1 to 20 of 278

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137157inversion1nstd234human GRCh37 chrX: 31,626,542-82,320,140 , GRCh38.p12 chrX: 31,608,425-83,065,132 ABCB7, ACTG1P10, 775 more genes
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098323copy number variation1nstd102humanPathogenic GRCh37 chrX: 53,222,149-55,057,617 , GRCh38.p12 chrX: 53,192,967-55,031,184 RPL37P24, KDM5C, 34 more genes
    nsv7030885inversion1nstd229human GRCh38 chrX: 52,934,179-55,490,651 , GRCh37.p13 chrX|NW_004070877.1: 2,647,294-4,110,759 , GRCh37.p13 chrX: 52,963,388-54,424,077 MRPS18CP7, TRO, 58 more genes
    nsv7025237inversion1nstd229human GRCh38 chrX: 50,557,525-57,228,328 , GRCh37.p13 chrX|NW_004070877.1: 270,640-4,110,759 , GRCh37.p13 chrX: 50,300,525-54,424,077 UBQLN2, IPO7P1, 141 more genes
    nsv7021646inversion1nstd229human GRCh38 chrX: 53,718,349-55,635,499 , GRCh37.p13 chrX: 54,424,078-55,661,932 RNA5SP505, MIR4536-2, 40 more genes
    nsv6636556copy number variation1nstd102humanUncertain significance GRCh37 chrX: 53,854,115-54,953,273 , GRCh38.p12 chrX: 53,827,617-54,926,840 TRO, PGAM4P1, 14 more genes
    nsv6636248copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 53,731,940-63,932,866 , GRCh38.p12 chrX: 53,704,997-64,712,986 ALAS2, FGD1, 89 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6315577complex substitution1nstd102humanPathogenic GRCh37 chrX: 590,376-56,315,041 , GRCh38.p12 chrX: 629,641-56,288,608 ACTG1P10, NR0B1, 778 more genes
    nsv6315393copy number variation1nstd102humanPathogenic GRCh37 chrX: 61,545-155,226,048 , GRCh38.p12 chrX: 11,545-155,996,383 H2BP8, LOC101060199, 2151 more genes
    nsv6315389copy number variation1nstd102humanPathogenic GRCh37 chrX: 11,522,765-155,233,731 , GRCh38.p12 chrX: 11,504,645-156,004,066 RBMX, LOC100129144, 2042 more genes
    nsv6315331copy number variation4nstd102humanPathogenic GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 PLAC1, PGK1P1, 2154 more genes
    nsv6315330copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-57,841,304 , GRCh38.p12 chrX: 251,879-57,814,871 NPM1P9, UBE2E4P, 799 more genes
    nsv6313227copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 52,881,435-55,684,871 , GRCh38.p12 chrX: 52,852,398-55,658,438 ACTG1P10, ALAS2, 64 more genes
    nsv6290656copy number variation1nstd102humanPathogenic GRCh37 chrX: 52,901,458-55,684,871 , GRCh38.p12 chrX: 52,872,427-55,658,438 MTND1P30, ALAS2, 63 more genes
    nsv6137619copy number variation1nstd213human GRCh37 chrX: 52,520,000-58,560,001 , GRCh38.p12 chrX: 52,523,686-58,533,568 ACTG1P10, ALAS2, 106 more genes
    nsv6137618copy number variation1nstd213human GRCh37 chrX: 52,510,000-58,560,001 , GRCh38.p12 chrX: 52,523,686-58,533,568 ACTG1P10, ALAS2, 106 more genes
    nsv6137617copy number variation1nstd213human GRCh37 chrX: 52,480,000-58,240,001 , GRCh38.p12 chrX: 52,523,686-58,213,567 ACTG1P10, ALAS2, 106 more genes
    nsv6137398copy number variation1nstd213human GRCh37 chrX: 52,680,000-58,580,001 , GRCh38.p12 chrX: 52,650,950-58,553,568 ACTG1P10, ALAS2, 99 more genes
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