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Items: 1 to 20 of 111

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    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
    nsv4728202copy number variation1nstd102humanUncertain significance GRCh37 chr1: 55,624,170-56,204,822 , GRCh38.p12 chr1: 55,158,497-55,739,149 LOC100507634, RN7SKP291, 7 more genes
    nsv4454880copy number variation1nstd102humanUncertain significance GRCh37 chr1: 55,623,897-56,180,866 , GRCh38.p12 chr1: 55,158,224-55,715,193 RNU6-830P, LOC100507634, 7 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
    nsv3899721copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 53,025,763-67,578,144 , GRCh37 chr1: 53,253,175-67,805,556 , GRCh38 chr1: 52,787,503-67,339,873 AK4, C8A, 230 more genes
    nsv3896927copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,061,024-77,233,450 , GRCh38 chr1: 52,595,352-76,767,765 , NCBI36 chr1: 52,833,612-77,006,038 DNAI4, LOC105378770, 346 more genes
    nsv3895522copy number variation1nstd102humanPathogenic GRCh37 chr1: 54,092,945-64,714,537 , GRCh38 chr1: 53,627,272-64,248,854 , NCBI36 chr1: 53,865,533-64,487,125 FGGY, L1TD1, 159 more genes
    nsv3893402copy number variation1nstd102humanPathogenic GRCh38 chr1: 53,738,212-61,439,648 , NCBI36 chr1: 53,976,473-61,677,908 , GRCh37 chr1: 54,203,885-61,905,320 LOC105378748, RPS26P15, 107 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
    nsv3874954copy number variation1nstd102humanUncertain significance GRCh37 chr1: 55,036,657-55,800,829 , GRCh38.p12 chr1: 54,570,984-55,335,156 TRK-CTT7-1, LOC105378736, 18 more genes
    nsv3167791inversion1nstd158human GRCh37 chr1: 42,414,066-227,813,903 , GRCh38.p12 chr1: 41,948,395-227,626,202 , ABCA4, 3418 more genes
    nsv1438900short tandem repeat1nstd128human GRCh37 chr1: 55,680,321-55,680,334 , GRCh38.p12 chr1: 55,214,648-55,214,661 USP24, LOC100507634
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