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Items: 1 to 20 of 189

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5677425mobile element insertion1nstd211human GRCh38 chr1: 84,664,657-84,664,657 , GRCh37.p13 chr1: 85,130,340-85,130,340 SSX2IP
    nsv5067551mobile element insertion1nstd203human GRCh38 chr1: 84,682,166-84,682,180 , GRCh37.p13 chr1: 85,147,849-85,147,863 SSX2IP
    nsv4903718copy number variation1nstd200human GRCh38 chr1: 84,642,929-84,665,957 , GRCh37.p13 chr1: 85,108,612-85,131,640 SSX2IP
    nsv4896723copy number variation1nstd200human GRCh38 chr1: 84,654,957-84,655,118 , GRCh37.p13 chr1: 85,120,640-85,120,801 SSX2IP
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4873320inversion1nstd200human GRCh37 chr1: 84,115,994-85,474,764 , GRCh38.p12 chr1: 83,650,311-85,009,081 , SAMD13, 22 more genes
    nsv4784029copy number variation1nstd200human GRCh37 chr1: 85,120,640-85,120,801 , GRCh38.p12 chr1: 84,654,957-84,655,118 SSX2IP
    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
    nsv4728566copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 80,804,502-89,490,384 , GRCh38.p12 chr1: 80,338,817-89,024,701 CLCA1, COX6A1P1, 103 more genes
    nsv4462708mobile element insertion1nstd166human GRCh37.p13 chr1: 85,144,560-85,144,560 , GRCh38.p12 chr1: 84,678,877-84,678,877 SSX2IP
    nsv4454000copy number variation1nstd102humanPathogenic GRCh37 chr1: 67,851,233-86,101,340 , GRCh38.p12 chr1: 67,385,550-85,635,657 NEXN, LOC107985391, 209 more genes
    nsv4450384copy number variation1nstd102humannot provided GRCh37 chr1: 66,085,524-88,429,789 , GRCh38.p12 chr1: 65,619,841-87,964,106 DEPDC1, ERICH3-AS1, 264 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
    nsv4056960copy number variation1nstd166human GRCh37.p13 chr1: 84,762,783-85,491,963 , GRCh38.p12 chr1: 84,297,100-85,026,280 , SPATA1, 16 more genes
    nsv3905989copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,884,987-89,094,147 , NCBI36 chr1: 76,657,575-88,866,735 , GRCh38 chr1: 76,419,302-88,628,464 DNAJB4, SH3GLB1, 146 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
    nsv3898327copy number variation1nstd102humanPathogenic GRCh38 chr1: 83,457,325-104,273,917 , GRCh37 chr1: 83,923,008-104,816,539 , NCBI36 chr1: 83,695,596-104,618,062 LINC01773, LOC107985095, 322 more genes
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