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Items: 1 to 20 of 159

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112661copy number variation1nstd102humanPathogenic GRCh37 chr1: 231,407,943-237,289,859 , GRCh38.p12 chr1: 231,272,197-237,126,559 LOC105373207, LOC105373210, 113 more genes
    nsv5875248copy number variation1nstd209human GRCh38 chr1: 235,116,202-235,116,931 , GRCh37.p13 chr1: 235,279,517-235,280,246 TOMM20
    nsv5441533copy number variation1nstd206human GRCh38 chr1: 235,116,254-235,116,932 , GRCh37.p13 chr1: 235,279,569-235,280,247 TOMM20
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5366113translocation1nstd200human GRCh38 chr1: 25,466,728-25,466,728 , GRCh38 chr1: 235,109,909-235,109,909 , GRCh37.p13 chr1: 235,273,224-235,273,224 , GRCh37.p13 chr1: 25,793,219-25,793,219 MACO1, TOMM20
    nsv5356326translocation1nstd200human GRCh38 chr1: 235,114,249-235,114,249 , GRCh38 chr1: 235,114,181-235,114,181 , GRCh37.p13 chr1: 235,277,564-235,277,564 , GRCh37.p13 chr1: 235,277,496-235,277,496 TOMM20
    nsv5064626mobile element insertion1nstd203human GRCh38 chr1: 235,111,146-235,111,160 , GRCh37.p13 chr1: 235,274,461-235,274,475 TOMM20
    nsv4899384copy number variation1nstd200human GRCh38 chr1: 235,115,423-235,116,911 , GRCh37.p13 chr1: 235,278,738-235,280,226 TOMM20
    nsv4899383copy number variation1nstd200human GRCh38 chr1: 235,103,771-235,108,100 , GRCh37.p13 chr1: 235,267,086-235,271,415 TOMM20
    nsv4785361copy number variation1nstd200human GRCh37 chr1: 235,279,552-235,280,251 , GRCh38.p12 chr1: 235,116,237-235,116,936 TOMM20
    nsv4728267copy number variation1nstd102humanUncertain significance GRCh37 chr1: 234,953,169-235,409,480 , GRCh38.p12 chr1: 234,817,422-235,246,165 MIR4753, LNCATV, 9 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674170copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,832,737-240,993,877 , GRCh38.p12 chr1: 228,696,990-240,830,577 LOC105373224, NUP133-DT, 208 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4674008copy number variation1nstd102humanPathogenic GRCh37 chr1: 233,843,930-237,971,511 , GRCh38.p12 chr1: 233,708,184-237,808,211 LGALS8-AS1, MTND6P14, 75 more genes
    nsv4580790copy number variation1nstd183human GRCh37 chr1: 235,266,459-235,287,802 , GRCh38.p12 chr1: 235,103,144-235,124,487 TOMM20
    nsv4563986mobile element insertion1nstd166human GRCh37.p13 chr1: 235,276,039-235,276,039 , GRCh38.p12 chr1: 235,112,724-235,112,724 TOMM20
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4374345copy number variation1nstd173human GRCh37 chr1: 234,940,830-236,097,017 , GRCh38.p12 chr1: 234,805,083-235,933,717 , LYST, 34 more genes
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