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Items: 1 to 20 of 314

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7086101copy number variation1nstd229human GRCh38 chrX: 19,663,657-28,237,068 , GRCh37.p13 chrX: 19,681,775-28,255,185 MAGEB18, RPS6KA3, 89 more genes
    nsv7085539copy number variation1nstd229human GRCh38 chrX: 15,461,305-24,177,792 , GRCh37.p13 chrX: 15,479,428-24,195,909 LOC105373146, PIR-FIGF, 104 more genes
    nsv7080237copy number variation1nstd229human GRCh38 chrX: 21,655,901-21,658,000 , GRCh37.p13 chrX: 21,674,019-21,676,118 KLHL34
    nsv7080236copy number variation1nstd229human GRCh38 chrX: 21,632,301-21,653,400 , GRCh37.p13 chrX: 21,650,419-21,671,518 CNKSR2, KLHL34
    nsv7080234copy number variation1nstd229human GRCh38 chrX: 21,629,617-21,672,051 , GRCh37.p13 chrX: 21,647,735-21,690,169 KLHL34, CNKSR2
    nsv7037605inversion1nstd229human GRCh38 chrX: 18,692,586-26,419,471 , GRCh37.p13 chrX: 18,710,705-26,437,588 PPEF1-AS1, MAP7D2, 79 more genes
    nsv6635997copy number variation1nstd102humanPathogenic GRCh37 chrX: 21,606,719-21,774,071 , GRCh38.p12 chrX: 21,588,601-21,755,953 KLHL34, CNKSR2, 1 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6634135copy number variation1nstd224human GRCh37 chrX: 2,700,157-26,836,730 , GRCh38.p12 chrX: 2,782,116-26,818,613 AMELX, ARSF, 258 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
    nsv6312981copy number variation1nstd102humanPathogenic GRCh37 chrX: 21,606,718-21,773,954 , GRCh38.p12 chrX: 21,588,600-21,755,836 CNKSR2, SMPX, 1 more genes
    nsv6290611copy number variation1nstd102humanUncertain significance GRCh37 chrX: 20,760,624-22,571,267 , GRCh38.p12 chrX: 20,742,506-22,553,150 PHEX, METTL15P3, 14 more genes
    nsv6290497copy number variation1nstd102humanPathogenic GRCh37 chrX: 21,606,718-21,780,720 , GRCh38.p12 chrX: 21,588,600-21,762,602 KLHL34, SMPX, 1 more genes
    nsv6137607copy number variation1nstd213human GRCh37 chrX: 4,160,000-52,130,001 , GRCh38.p12 chrX: 4,241,959-52,386,858 NR0B1, AMELX, 630 more genes
    nsv6137606copy number variation1nstd213human GRCh37 chrX: 2,750,000-52,110,001 , GRCh38.p12 chrX: 2,831,959-52,366,858 NR0B1, AMELX, 653 more genes
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