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Items: 1 to 20 of 122

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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
    nsv4903507copy number variation1nstd200human GRCh38 chr1: 53,228,821-53,250,258 , GRCh37.p13 chr1: 53,694,493-53,715,930 MAGOH, MAGOH-DT, 1 more genes
    nsv4890208copy number variation1nstd200human GRCh38 chr1: 53,240,833-53,240,964 , GRCh37.p13 chr1: 53,706,505-53,706,636 MAGOH-DT, LRP8
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4780857copy number variation1nstd200human GRCh37 chr1: 53,694,493-53,715,930 , GRCh38.p12 chr1: 53,228,821-53,250,258 MAGOH, MAGOH-DT, 1 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
    nsv4674651copy number variation1nstd102humanLikely benign GRCh37 chr1: 53,039,602-53,734,721 , GRCh38.p12 chr1: 52,573,930-53,269,049 TUBBP10, CPT2P1, 27 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
    nsv4033946copy number variation1nstd166human GRCh37.p13 chr1: 53,706,505-53,706,636 , GRCh38.p12 chr1: 53,240,833-53,240,964 LRP8, MAGOH-DT
    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
    nsv3888039copy number variation1nstd102humanUncertain significance GRCh37 chr1: 53,370,010-54,017,544 , GRCh38.p12 chr1: 52,904,338-53,551,871 LOC105378731, H3P2, 24 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
    nsv3871136copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,729,573-55,164,001 , GRCh38.p12 chr1: 51,263,901-54,698,328 MROH7, LOC105378726, 100 more genes
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