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Items: 1 to 20 of 365

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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
    nsv7087644copy number variation1nstd229human GRCh38 chrX: 45,173,509-45,173,544 , GRCh37.p13 chrX: 45,032,754-45,032,789 DIPK2B
    nsv7087643copy number variation1nstd229human GRCh38 chrX: 45,170,579-45,173,533 , GRCh37.p13 chrX: 45,029,824-45,032,778 DIPK2B
    nsv7087642copy number variation1nstd229human GRCh38 chrX: 45,145,658-45,151,643 , GRCh37.p13 chrX: 45,004,903-45,010,888 DIPK2B
    nsv7087639copy number variation1nstd229human GRCh38 chrX: 45,084,301-45,312,900 , GRCh37.p13 chrX: 44,943,546-45,172,145 DIPK2B, KDM6A
    nsv7087630copy number variation1nstd229human GRCh38 chrX: 45,004,460-45,394,857 , GRCh37.p13 chrX: 44,863,705-45,254,102 DIPK2B, LOC105373191, 2 more genes
    nsv7087628copy number variation1nstd229human GRCh38 chrX: 44,955,459-45,174,902 , GRCh37.p13 chrX: 44,814,704-45,034,147 DIPK2B, KDM6A
    nsv6637069copy number variation1nstd102humanPathogenic GRCh37 chrX: 39,525,562-52,832,596 , GRCh38.p12 chrX: 39,666,308-52,803,572 LOC100419238, NDP, 312 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6634055copy number variation1nstd224human GRCh37 chrX: 44,833,841-45,034,557 , GRCh38.p12 chrX: 44,974,596-45,175,312 KDM6A, DIPK2B
    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
    nsv6313343copy number variation1nstd102humanUncertain significance GRCh37 chrX: 44,815,967-45,037,328 , GRCh38.p12 chrX: 44,956,722-45,178,083 KDM6A, DIPK2B
    nsv6223529insertion1nstd214human GRCh38 chrX: 45,175,596-45,175,596 , GRCh37.p13 chrX: 45,034,841-45,034,841 DIPK2B
    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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