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Items: 1 to 20 of 326

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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
    nsv7071686copy number variation1nstd229human GRCh38 chrX: 12,687,274-12,848,051 , GRCh37.p13 chrX: 12,705,393-12,866,170 PSMA6P2, FRMPD4, 2 more genes
    nsv7069993copy number variation1nstd229human GRCh38 chrX: 12,806,098-12,827,028 , GRCh37.p13 chrX: 12,824,217-12,845,147 PRPS2, PSMA6P2
    nsv7067911copy number variation1nstd229human GRCh38 chrX: 12,827,060-12,827,608 , GRCh37.p13 chrX: 12,845,179-12,845,727 PSMA6P2
    nsv7063851copy number variation1nstd229human GRCh38 chrX: 12,826,579-12,829,587 , GRCh37.p13 chrX: 12,844,698-12,847,706 PSMA6P2
    nsv7059272copy number variation1nstd229human GRCh38 chrX: 12,764,034-12,905,466 , GRCh37.p13 chrX: 12,782,153-12,923,585 PSMA6P2, TLR8-AS1, 4 more genes
    nsv7030183inversion1nstd229human GRCh38 chrX: 9,810,086-13,425,949 , GRCh37.p13 chrX: 9,778,126-13,444,068 EIF5P1, ATXN3L, 32 more genes
    nsv6636165copy number variation1nstd102humanPathogenic GRCh37 chrX: 2,703,633-14,515,021 , GRCh38.p12 chrX: 2,785,592-14,496,899 GPX1P1, XG, 108 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6634196copy number variation1nstd224human GRCh37 chrX: 12,678,205-13,270,325 , GRCh38.p12 chrX: 12,660,086-13,252,206 FRMPD4, TLR7, 9 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
    nsv6314786copy number variation1nstd220human GRCh37 chrX: 2,795,214-17,648,380 , GRCh38.p12 chrX: 2,877,173-17,630,260 AMELX, SHROOM2, 156 more genes
    nsv6314783copy number variation1nstd220human GRCh37 chrX: 2,795,214-16,240,667 , GRCh38.p12 chrX: 2,877,173-16,222,544 AMELX, SHROOM2, 137 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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