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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381136copy number variation1nstd102humanUncertain significance GRCh37 chr1: 63,063,238-63,153,935 , GRCh38.p12 chr1: 62,597,567-62,688,264 RPL13AP9, ANGPTL3, 1 more genes
    nsv5202671copy number variation1nstd204human GRCh38.p13 chr1: 62,600,201-62,606,900 , GRCh37.p13 chr1: 63,065,872-63,072,571 ANGPTL3, DOCK7
    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
    nsv4594606copy number variation2nstd183human GRCh37 chr1: 63,070,601-63,083,764 , GRCh38.p12 chr1: 62,604,930-62,618,093 DOCK7, ANGPTL3
    nsv4581464copy number variation1nstd183human GRCh37 chr1: 63,070,668-63,071,729 , GRCh38.p12 chr1: 62,604,997-62,606,058 DOCK7, ANGPTL3
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 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
    nsv3917614copy number variation1nstd102humanUncertain significance NCBI36 chr1: 62,526,231-64,034,328 , GRCh37.p13 chr1: 62,753,643-64,261,740 , GRCh38.p12 chr1: 62,287,971-63,796,069 DLEU2L, DOCK7, 27 more genes
    nsv3909388copy number variation1nstd102humanPathogenic GRCh37 chr1: 57,816,246-71,791,607 , GRCh38 chr1: 57,350,574-71,325,924 , NCBI36 chr1: 57,588,834-71,564,195 RNU6-1031P, LOC107984963, 193 more genes
    nsv3903468copy number variation1nstd102humanPathogenic NCBI36 chr1: 59,870,760-76,969,150 , GRCh37 chr1: 60,098,172-77,196,562 , GRCh38 chr1: 59,632,500-76,730,877 WLS, LOC105378776, 219 more genes
    nsv3901841copy number variation1nstd102humanPathogenic GRCh38 chr1: 59,760,856-71,578,052 , NCBI36 chr1: 59,999,116-71,816,323 , GRCh37 chr1: 60,226,528-72,043,735 MIR3116-2, NFIA-AS2, 169 more genes
    nsv3901546copy number variation1nstd102humanPathogenic NCBI36 chr1: 59,057,865-86,336,882 , GRCh37 chr1: 59,285,277-86,564,294 , GRCh38 chr1: 58,819,605-86,098,611 ROR1, RNA5SP51, 333 more genes
    nsv3901058copy number variation1nstd102humanPathogenic GRCh38 chr1: 60,473,800-70,944,955 , NCBI36 chr1: 60,712,060-71,183,226 , GRCh37 chr1: 60,939,472-71,410,638 UBE2U, LOC105378776, 150 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
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