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Items: 1 to 20 of 121

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5431614copy number variation1nstd206human GRCh38 chr1: 75,608,610-75,913,087 , GRCh37.p13 chr1: 76,074,295-76,378,772 ACADM, DLSTP1, 7 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 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
    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
    nsv4449847copy number variation1nstd102humanPathogenic GRCh37 chr1: 66,868,168-77,106,425 , GRCh38.p12 chr1: 66,402,485-76,640,740 GNG12-AS1, C1orf141, 118 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
    nsv4379413copy number variation1nstd173human GRCh37 chr1: 76,229,838-76,252,849 , GRCh38.p12 chr1: 75,764,153-75,787,164 RABGGTB, ACADM, 2 more genes
    nsv4347043copy number variation1nstd102humanPathogenic GRCh37 chr1: 71,410,579-78,131,158 , GRCh38.p12 chr1: 70,944,896-77,665,473 ST6GALNAC3, RNU7-8P, 67 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
    nsv3908260copy number variation1nstd102humanPathogenic GRCh37 chr1: 67,330,808-77,589,066 , NCBI36 chr1: 67,103,396-77,361,654 , GRCh38 chr1: 66,865,125-77,123,381 RNA5SP50, LINC01360, 119 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
    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
    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
    nsv3889910copy number variation1nstd102humanUncertain significance GRCh37 chr1: 74,848,936-80,324,850 , GRCh38.p12 chr1: 74,383,252-79,859,165 LOC100418965, SNORD45B, 72 more genes
    nsv3887757copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 72,103,442-77,186,974 , GRCh38.p12 chr1: 71,637,759-76,721,289 ACADM, CRYZ, 48 more genes
    nsv3886551copy number variation1nstd102humanPathogenic GRCh37 chr1: 64,321,264-88,153,669 , GRCh38.p12 chr1: 63,855,593-87,687,986 RNU6-1102P, RAVER2, 291 more genes
    nsv3885743copy number variation1nstd102humanPathogenic GRCh37 chr1: 72,044,544-92,505,091 , GRCh38.p12 chr1: 71,578,861-92,039,534 ZNHIT6, CCN1, 257 more genes
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