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Items: 1 to 20 of 95

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv7044103inversion1nstd229human GRCh38 chr1: 26,905,652-33,050,814 , GRCh37.p13 chr1: 27,232,143-33,516,415 ADGRB2, SNORA16A, 169 more genes
    nsv6313753copy number variation1nstd102humanUncertain significance GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520 DCDC2B, SNRNP40, 130 more genes
    nsv6133773copy number variation1nstd213human GRCh37 chr1: 31,350,000-33,290,001 , GRCh38.p12 chr1: 30,877,153-32,824,400 ADGRB2, COL16A1, 62 more genes
    nsv5983586copy number variation1nstd212human GRCh38 chr1: 30,209,364-32,642,526 , GRCh37.p13 chr1: 30,682,211-33,108,127 , HDAC1, 69 more genes
    nsv5202833copy number variation1nstd204human GRCh38.p13 chr1: 32,336,501-32,344,800 , GRCh37.p13 chr1: 32,802,102-32,810,401 MARCKSL1, LOC105378629
    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
    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
    nsv4454237copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,139,063-32,940,848 , GRCh38.p12 chr1: 31,673,462-32,475,247 IQCC, TSSK3, 26 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
    nsv4044761copy number variation1nstd166human GRCh37.p13 chr1: 32,800,701-32,801,546 , GRCh38.p12 chr1: 32,335,100-32,335,945 MARCKSL1
    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
    nsv3878546copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,608,682-32,953,541 , GRCh38.p12 chr1: 32,143,081-32,487,940 FAM167B, KPNA6, 18 more genes
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