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Items: 1 to 20 of 96

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099191copy number variation1nstd231human GRCh38.p12 chr1: 29,821,343-31,198,272 , GRCh37 chr1: 30,294,190-31,671,119 MATN1, LAPTM5, 21 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
    nsv6648197copy number variation1nstd229human GRCh38 chr1: 30,850,901-30,859,700 , GRCh37.p13 chr1: 31,323,748-31,332,547 LOC400748
    nsv6648196copy number variation1nstd229human GRCh38 chr1: 30,799,657-30,882,523 , GRCh37.p13 chr1: 31,272,504-31,355,370 SDC3, RN7SKP91, 2 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
    nsv5983586copy number variation1nstd212human GRCh38 chr1: 30,209,364-32,642,526 , GRCh37.p13 chr1: 30,682,211-33,108,127 , HDAC1, 69 more genes
    nsv5953512insertion1nstd209human GRCh38 chr1: 30,862,239-30,862,239 , GRCh37.p13 chr1: 31,335,086-31,335,086 LOC400748
    nsv5540908insertion1nstd206human GRCh38 chr1: 30,857,202-30,857,204 , GRCh37.p13 chr1: 31,330,049-31,330,051 LOC400748
    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
    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
    nsv4048513copy number variation1nstd166human GRCh37.p13 chr1: 31,323,742-31,332,538 , GRCh38.p12 chr1: 30,850,895-30,859,691 LOC400748
    nsv3909270copy number variation1nstd102humanUncertain significance GRCh37 chr1: 30,333,074-31,337,748 , NCBI36 chr1: 30,105,661-31,110,335 , GRCh38 chr1: 29,860,227-30,864,901 LINC01778, LOC105378620, 10 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
    nsv3902515copy number variation1nstd102humanUncertain significance GRCh38 chr1: 29,015,141-30,983,083 , GRCh37 chr1: 29,341,653-31,455,930 , NCBI36 chr1: 29,214,240-31,228,517 PUM1, SDC3, 24 more genes
    nsv3902284copy number variation1nstd102humanUncertain significance NCBI36 chr1: 31,057,393-31,648,206 , GRCh37 chr1: 31,284,806-31,872,758 , GRCh38 chr1: 30,811,959-31,402,772 SNRNP40, SNORD103A, 16 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
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