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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673254copy number variation1nstd102humanPathogenic GRCh37 chr1: 25,870,180-26,795,632 , GRCh38.p12 chr1: 25,543,689-26,469,141 LDLRAP1, AUNIP, 36 more genes
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4374244copy number variation1nstd173human GRCh37 chr1: 26,466,601-26,527,442 , GRCh38.p12 chr1: 26,140,110-26,200,951 FAM110D, C1orf232, 3 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3125092copy number variation1nstd151human GRCh37 chr1: 26,496,906-26,529,038 , GRCh38.p12 chr1: 26,170,415-26,202,547 ZNF593, CATSPER4, 1 more genes
    nsv3119455copy number variation1nstd151human GRCh37 chr1: 26,365,648-27,609,945 , GRCh38.p12 chr1: 26,039,157-27,283,454 , CD52, 53 more genes
    nsv1146931inversion1nstd107human GRCh37 chr1: 6,858,651-214,875,307 , GRCh38.p12 chr1: 6,798,591-214,701,964 , ABCA4, 4151 more genes
    nsv1132997inversion1nstd106human GRCh37 chr1: 16,843,414-234,953,211 , GRCh38.p12 chr1: 16,516,919-234,817,464 , AGT, 4287 more genes
    nsv1130629copy number variation1nstd106human GRCh37 chr1: 16,926,343-149,118,854 , GRCh38.p12 chr1: 16,599,848-149,528,945 , LINC01361, 2341 more genes
    esv3815443copy number variation1estd192human GRCh37 chr1: 14,660,218-180,369,490 , GRCh38.p12 chr1: 14,333,723-180,400,355 , LOC105378768, 3374 more genes
    esv3815486copy number variation1estd192human GRCh37 chr1: 25,613,333-33,070,221 , GRCh38.p12 chr1: 25,286,842-32,604,620 , LOC101928728, 215 more genes
    esv3812944copy number variation1estd192human GRCh37 chr1: 22,511,560-229,652,792 , GRCh38.p12 chr1: 22,185,067-229,517,045 , GSTM1, 4028 more genes
    esv3794766tandem duplication1estd192human GRCh37 chr1: 921,843-46,507,019 , GRCh38.p12 chr1: 986,463-46,041,347 , ZSWIM5, 1264 more genes
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