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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5423257copy number variation1nstd206human GRCh38 chr1: 54,053,737-54,053,802 , GRCh37.p13 chr1: 54,519,410-54,519,475 TMEM59, TCEANC2, 1 more genes
    nsv5421163copy number variation1nstd206human GRCh38 chr1: 54,020,259-54,030,415 , GRCh37.p13 chr1: 54,485,932-54,496,088 TMEM59
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5074649mobile element insertion1nstd203human GRCh38 chr1: 54,025,906-54,025,935 , GRCh37.p13 chr1: 54,491,579-54,491,608 TMEM59
    nsv5070842mobile element insertion1nstd203human GRCh38 chr1: 54,025,863-54,025,892 , GRCh37.p13 chr1: 54,491,536-54,491,565 TMEM59
    nsv4903511copy number variation1nstd200human GRCh38 chr1: 53,988,281-54,067,983 , GRCh37.p13 chr1: 54,453,954-54,533,656 TMEM59, TCEANC2, 2 more genes
    nsv4890235copy number variation1nstd200human GRCh38 chr1: 54,031,154-54,036,145 , GRCh37.p13 chr1: 54,496,827-54,501,818 TMEM59
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783283copy number variation1nstd200human GRCh37 chr1: 54,496,827-54,501,818 , GRCh38.p12 chr1: 54,031,154-54,036,145 TMEM59
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 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
    nsv4581873copy number variation1nstd183human GRCh37 chr1: 54,004,078-54,571,989 , GRCh38.p12 chr1: 53,538,405-54,106,316 NDC1, COX7BP3, 12 more genes
    nsv4453879copy number variation1nstd102humanUncertain significance GRCh37 chr1: 54,002,963-54,575,440 , GRCh38.p12 chr1: 53,537,290-54,109,767 MIR4781, DIO1, 12 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
    nsv4373302copy number variation1nstd173human GRCh37 chr1: 54,482,751-54,503,522 , GRCh38.p12 chr1: 54,017,078-54,037,849 TMEM59, LDLRAD1
    nsv4341852mobile element insertion1nstd166human GRCh37.p13 chr1: 54,495,815-54,495,815 , GRCh38.p12 chr1: 54,030,142-54,030,142 TMEM59
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4036266copy number variation1nstd166human GRCh37.p13 chr1: 54,506,159-54,506,232 , GRCh38.p12 chr1: 54,040,486-54,040,559 TMEM59
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