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Items: 1 to 20 of 92

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5212241copy number variation1nstd204human GRCh38.p13 chr1: 28,084,401-28,971,400 , GRCh37.p13 chr1: 28,410,912-29,297,912 SNORA73B, ARL8BP2, 29 more genes
    nsv5208686copy number variation1nstd204human GRCh38.p13 chr1: 28,487,801-28,724,600 , GRCh37.p13 chr1: 28,814,313-29,051,112 SNORD99, PHACTR4, 15 more genes
    nsv4903279copy number variation1nstd200human GRCh38 chr1: 28,486,426-28,604,772 , GRCh37.p13 chr1: 28,812,938-28,931,284 SNORA73A, PRDX3P2, 12 more genes
    nsv4895633copy number variation1nstd200human GRCh38 chr1: 28,595,662-28,596,350 , GRCh37.p13 chr1: 28,922,174-28,922,862 RAB42
    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
    nsv4594454copy number variation1nstd183human GRCh37 chr1: 28,284,815-28,955,102 , GRCh38.p12 chr1: 27,958,304-28,628,590 RNU6ATAC27P, ARL8BP2, 26 more genes
    nsv4580975copy number variation1nstd183human GRCh37 chr1: 28,624,481-28,943,345 , GRCh38.p12 chr1: 28,297,970-28,616,833 SNHG12, TRNAU1AP, 14 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
    nsv4036673copy number variation1nstd166human GRCh37.p13 chr1: 28,898,311-28,926,032 , GRCh38.p12 chr1: 28,571,799-28,599,520 TRNAU1AP, SNHG12, 5 more genes
    nsv3918127copy number variation1nstd102humanUncertain significance NCBI36 chr1: 28,645,394-28,806,136 , GRCh37.p13 chr1: 28,772,807-28,933,549 , GRCh38.p12 chr1: 28,446,296-28,607,037 TAF12, SNHG12, 13 more genes
    nsv3909774copy number variation1nstd102humanUncertain significance NCBI36 chr1: 28,497,755-28,833,661 , GRCh37 chr1: 28,625,168-28,961,074 , GRCh38 chr1: 28,298,657-28,634,562 SNORA16A, SNORA61, 14 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
    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
    nsv3894712copy number variation1nstd102humanUncertain significance GRCh37 chr1: 28,245,710-28,933,738 , GRCh38 chr1: 27,919,199-28,607,226 , NCBI36 chr1: 28,118,297-28,806,325 SNHG12, TRNAU1AP, 26 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
    nsv3887960copy number variation1nstd102humanLikely benign GRCh37 chr1: 28,891,341-28,939,710 , GRCh38.p12 chr1: 28,564,829-28,613,198 SNHG12, RAB42, 6 more genes
    nsv3887306copy number variation1nstd102humanLikely benign GRCh37 chr1: 28,891,341-28,969,495 , GRCh38.p12 chr1: 28,564,829-28,642,983 TAF12, SNORA44, 7 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
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