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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4903406copy number variation1nstd200human GRCh38 chr1: 42,064,199-42,539,759 , GRCh37.p13 chr1: 42,529,870-43,005,430 GUCA2B, RIMKLA, 8 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
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3924296copy number variation1nstd102humanUncertain significance NCBI36 chr1: 41,641,081-42,802,293 , GRCh37.p13 chr1: 41,868,494-43,029,706 , GRCh38.p12 chr1: 41,402,822-42,564,035 HIVEP3, LOC105378678, 14 more genes
    nsv3908884copy number variation1nstd102humanPathogenic GRCh37 chr1: 41,300,076-43,588,742 , GRCh38 chr1: 40,834,404-43,123,071 , NCBI36 chr1: 41,072,663-43,361,329 PPCS, ZNF691, 46 more genes
    nsv3900473copy number variation1nstd102humanPathogenic GRCh38 chr1: 40,693,289-44,514,104 , GRCh37 chr1: 41,158,961-44,979,776 , NCBI36 chr1: 40,931,548-44,752,363 KDM4A, RN7SL326P, 102 more genes
    nsv3893621copy number variation1nstd102humanPathogenic GRCh38 chr1: 38,108,665-42,327,551 , NCBI36 chr1: 38,346,924-42,565,809 , GRCh37 chr1: 38,574,337-42,793,222 NT5C1A, FOXO6, 98 more genes
    nsv3892747copy number variation1nstd102humanPathogenic NCBI36 chr1: 40,700,674-44,906,299 , GRCh37 chr1: 40,928,087-45,133,712 , GRCh38 chr1: 40,462,415-44,668,040 ERMAP, LOC100419796, 116 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3885080copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 41,343,608-43,121,507 , GRCh38.p12 chr1: 40,877,936-42,655,836 CTPS1, EDN2, 26 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
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 LINC02786, LOC105378678, 365 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3195548copy number variation2nstd152human GRCh38 chr1: 42,159,155-42,163,292 , GRCh37.p13 chr1: 42,624,826-42,628,963 GUCA2A
    nsv3167791inversion1nstd158human GRCh37 chr1: 42,414,066-227,813,903 , GRCh38.p12 chr1: 41,948,395-227,626,202 , ABCA4, 3418 more genes
    nsv1490982short tandem repeat1nstd128human GRCh37 chr1: 42,628,332-42,628,348 , GRCh38.p12 chr1: 42,162,661-42,162,677 GUCA2A
    nsv1196351copy number variation1nstd113human NCBI36 chr1: 40,891,634-43,710,391 , GRCh37.p13 chr1: 41,119,047-43,937,804 , GRCh38.p12 chr1: 40,653,375-43,472,133 , EDN2, 75 more genes
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