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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6119034copy number variation1nstd186human GRCh37 chr2: 222,388,301-222,388,583 , GRCh38.p12 chr2: 221,523,581-221,523,863 EPHA4
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5904412copy number variation1nstd209human GRCh38 chr2: 221,566,901-221,566,963 , GRCh37.p13 chr2: 222,431,621-222,431,683 EPHA4
    nsv5894479copy number variation1nstd209human GRCh38 chr2: 221,424,954-221,425,158 , GRCh37.p13 chr2: 222,289,674-222,289,878 EPHA4
    nsv5888450copy number variation1nstd209human GRCh38 chr2: 221,523,564-221,523,862 , GRCh37.p13 chr2: 222,388,284-222,388,582 EPHA4
    nsv5832213copy number variation1nstd209human GRCh38 chr2: 221,544,257-221,548,145 , GRCh37.p13 chr2: 222,408,977-222,412,865 EPHA4
    nsv5723083mobile element insertion1nstd211human GRCh38 chr2: 221,555,773-221,555,773 , GRCh37.p13 chr2: 222,420,493-222,420,493 EPHA4
    nsv5693935mobile element insertion1nstd211human GRCh38 chr2: 221,462,570-221,462,570 , GRCh37.p13 chr2: 222,327,290-222,327,290 EPHA4
    nsv5688686mobile element insertion1nstd211human GRCh38 chr2: 221,522,751-221,522,751 , GRCh37.p13 chr2: 222,387,471-222,387,471 EPHA4
    nsv5623391insertion1nstd207human GRCh38 chr2: 221,566,969-221,566,969 , GRCh37.p13 chr2: 222,431,689-222,431,689 EPHA4
    nsv5614641insertion1nstd207human GRCh38 chr2: 221,570,797-221,570,797 , GRCh37.p13 chr2: 222,435,517-222,435,517 EPHA4
    nsv5605034insertion1nstd207human GRCh38 chr2: 221,499,609-221,499,609 , GRCh37.p13 chr2: 222,364,329-222,364,329 EPHA4
    nsv5574525copy number variation1nstd207human GRCh38 chr2: 221,470,544-221,470,609 , GRCh37.p13 chr2: 222,335,264-222,335,329 EPHA4
    nsv5571438copy number variation1nstd207human GRCh38 chr2: 221,424,954-221,425,158 , GRCh37.p13 chr2: 222,289,674-222,289,878 EPHA4
    nsv5565126copy number variation1nstd207human GRCh38 chr2: 221,523,564-221,523,862 , GRCh37.p13 chr2: 222,388,284-222,388,582 EPHA4
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5452153copy number variation1nstd206human GRCh38 chr2: 221,424,954-221,425,159 , GRCh37.p13 chr2: 222,289,674-222,289,879 EPHA4
    nsv5451673copy number variation1nstd206human GRCh38 chr2: 221,523,544-221,523,883 , GRCh37.p13 chr2: 222,388,264-222,388,603 EPHA4
    nsv5449581copy number variation1nstd206human GRCh38 chr2: 221,512,988-221,513,319 , GRCh37.p13 chr2: 222,377,708-222,378,039 EPHA4
    nsv5446510copy number variation1nstd206human GRCh38 chr2: 221,505,293-221,537,351 , GRCh37.p13 chr2: 222,370,013-222,402,071 EPHA4, TMEM256P2
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