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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5607543insertion1nstd207human GRCh38 chr1: 31,578,877-31,578,877 , GRCh37.p13 chr1: 32,044,478-32,044,478 TINAGL1
    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
    nsv4742634copy number variation1nstd199human GRCh37 chr1: 32,045,770-32,045,830 , GRCh38.p12 chr1: 31,580,169-31,580,229 TINAGL1
    nsv4674454copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 30,819,875-34,380,419 , GRCh38.p12 chr1: 30,347,028-33,914,818 AK2, ADGRB2, 97 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
    nsv3908863copy number variation1nstd102humanUncertain significance GRCh37 chr1: 31,337,689-32,486,842 , NCBI36 chr1: 31,110,276-32,259,429 , GRCh38 chr1: 30,864,842-32,021,241 LOC107984935, RPL21P22, 32 more genes
    nsv3907483copy number variation1nstd102humanPathogenic GRCh37 chr1: 27,289,536-32,744,646 , GRCh38 chr1: 26,963,045-32,279,045 , NCBI36 chr1: 27,162,123-32,517,233 ATP5IF1, LOC102723760, 138 more genes
    nsv3905012copy number variation1nstd102humanPathogenic GRCh38 chr1: 31,122,108-32,402,160 , GRCh37 chr1: 31,594,955-32,867,761 , NCBI36 chr1: 31,367,542-32,640,348 LDC1P, ADGRB2, 42 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3895257copy number variation1nstd102humanPathogenic GRCh37 chr1: 31,239,605-33,825,029 , NCBI36 chr1: 31,012,192-33,597,616 , GRCh38 chr1: 30,766,758-33,359,428 LOC105378623, TINAGL1, 85 more genes
    nsv3891425copy number variation1nstd102humanPathogenic NCBI36 chr1: 28,623,965-33,361,042 , GRCh37 chr1: 28,751,378-33,588,455 , GRCh38 chr1: 28,424,867-33,122,854 SNHG3, LOC105378620, 115 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
    nsv3874782copy number variation1nstd102humanPathogenic GRCh37 chr1: 31,562,164-37,421,958 , GRCh38.p12 chr1: 31,089,317-36,956,357 LOC101929444, GJB4, 143 more genes
    nsv3210342copy number variation2nstd152human GRCh38 chr1: 31,578,425-31,578,621 , GRCh37.p13 chr1: 32,044,026-32,044,222 LOC105378626, TINAGL1
    nsv3203472copy number variation1nstd152human GRCh38 chr1: 31,578,440-31,578,606 , GRCh37.p13 chr1: 32,044,041-32,044,207 TINAGL1, LOC105378626
    nsv3132545copy number variation1nstd151human GRCh37 chr1: 31,842,229-32,280,939 , GRCh38.p12 chr1: 31,369,382-31,815,338 , PEF1-AS1, 19 more genes
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