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Items: 1 to 20 of 76

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv4895414copy number variation1nstd200human GRCh38 chr1: 25,021,908-25,021,975 , GRCh37.p13 chr1: 25,348,399-25,348,466 MIR4425
    nsv4788520copy number variation1nstd200human GRCh37 chr1: 25,348,399-25,348,466 , GRCh38.p12 chr1: 25,021,908-25,021,975 MIR4425
    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
    nsv4680895copy number variation1nstd189human GRCh37.p13 chr1: 25,307,547-25,717,336 , GRCh38.p12 chr1: 24,981,056-25,390,845 RHCE, RHD, 8 more genes
    nsv4594441copy number variation1nstd183human GRCh37 chr1: 25,307,684-25,723,250 , GRCh38.p12 chr1: 24,981,193-25,396,759 RHD, SDHDP6, 9 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
    nsv4398798copy number variation1nstd174human GRCh37 chr1: 25,307,672-25,719,599 , GRCh38.p12 chr1: 24,981,181-25,393,108 RHD, RSRP1, 8 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
    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
    nsv3137253copy number variation1nstd151human GRCh37 chr1: 25,245,728-25,599,191 , GRCh38.p12 chr1: 24,919,237-25,272,700 , RUNX3-AS1, 9 more genes
    nsv1313493copy number variation1nstd122human NCBI36 chr1: 25,180,863-25,593,666 , GRCh37.p13 chr1: 25,308,276-25,721,079 , GRCh38.p12 chr1: 24,981,785-25,394,588 SDHDP6, TMEM50A, 8 more genes
    nsv1308898copy number variation1nstd122human NCBI36 chr1: 25,185,549-25,562,811 , GRCh37.p13 chr1: 25,312,962-25,690,224 , GRCh38.p12 chr1: 24,986,471-25,363,733 SYF2, LOC105376882, 8 more genes
    nsv1193740copy number variation2nstd113human NCBI36 chr1: 25,186,111-25,542,319 , GRCh37.p13 chr1: 25,313,524-25,669,732 , GRCh38.p12 chr1: 24,987,033-25,343,241 RHD, TMEM50A, 7 more genes
    nsv1146931inversion1nstd107human GRCh37 chr1: 6,858,651-214,875,307 , GRCh38.p12 chr1: 6,798,591-214,701,964 , ABCA4, 4151 more genes
    nsv1132997inversion1nstd106human GRCh37 chr1: 16,843,414-234,953,211 , GRCh38.p12 chr1: 16,516,919-234,817,464 , AGT, 4287 more genes
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