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Items: 1 to 20 of 191

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6818709copy number variation1nstd229human GRCh38 chr7: 74,993,422-78,510,839 , GRCh37.p13 chr7: 75,921,853-78,140,156 TMEM120A, LOC105375359, 75 more genes
    nsv6818585copy number variation1nstd229human GRCh38 chr7: 75,472,281-75,520,713 , GRCh37.p13 chr7|NW_003871064.1: 3,001,517-3,049,949 , GRCh37.p13 chr7: 75,101,547-75,150,042 SPDYE5, PMS2P3, 1 more genes
    nsv6636822copy number variation1nstd102humanLikely pathogenic GRCh37 chr7: 75,085,014-76,007,380 , GRCh38.p12 chr7: 75,455,741-76,378,063 HIP1, HSPB1, 21 more genes
    nsv6636639copy number variation1nstd102humanUncertain significance GRCh37 chr7: 75,091,880-75,951,903 , GRCh38.p12 chr7: 75,462,615-76,322,586 LOC100129130, PMS2P3, 20 more genes
    nsv6634332copy number variation1nstd102humanUncertain significance GRCh37 chr7: 113,371-159,042,325 , GRCh38.p12 chr7: 113,371-159,249,635 RRBP1P1, SLC29A4P1, 2680 more genes
    nsv6607198copy number variation1nstd223human GRCh38 chr7: 75,354,101-76,443,000 , GRCh37.p13 chr7: 74,983,342-75,921,852 , GRCh37.p13 chr7|NW_003871064.1: 2,883,337-3,821,770 ZP3, LOC645324, 28 more genes
    nsv6600803copy number variation1nstd223human GRCh38 chr7: 75,472,281-75,520,713 , GRCh37.p13 chr7|NW_003871064.1: 3,001,517-3,049,949 , GRCh37.p13 chr7: 75,101,547-75,150,042 PMS2P3, POM121C, 1 more genes
    nsv6315223complex substitution1nstd102humanPathogenic GRCh37 chr7: 43,360-159,119,707 , GRCh38.p12 chr7: 43,360-159,327,017 AOC1, ACHE, 2682 more genes
    nsv6304300copy number variation1nstd186human GRCh37 chr7: 75,104,045-75,144,525 , GRCh38.p12 chr7: 75,474,779-75,515,200 PMS2P3, SPDYE5, 1 more genes
    nsv6290688copy number variation1nstd102humanPathogenic GRCh38 chr7: 75,058,300-79,083,658 , GRCh37.p13 chr7: 75,921,853-78,712,974 GTF2IP1, TMEM60, 76 more genes
    nsv6216634insertion1nstd214human GRCh38 chr7: 75,501,592-75,501,592 , GRCh37.p13 chr7: 75,130,916-75,130,916 , GRCh37.p13 chr7|NW_003871064.1: 3,030,828-3,030,828 SPDYE5
    nsv6175244copy number variation1nstd214human GRCh38 chr7: 75,501,468-75,501,542 , GRCh37.p13 chr7|NW_003871064.1: 3,030,704-3,030,778 , GRCh37.p13 chr7: 75,130,792-75,130,866 SPDYE5
    nsv6137011copy number variation1nstd213human GRCh37 chr7: 75,030,000-76,100,001 , GRCh38.p12 chr7: 75,400,716-76,470,684 HIP1, MDH2, 27 more genes
    nsv6136203copy number variation1nstd213human GRCh37 chr7: 75,050,000-76,130,001 , GRCh38.p12 chr7: 75,420,717-76,500,684 YWHAG, TMEM120A, 25 more genes
    nsv6067856insertion1nstd212human GRCh38 chr7: 75,493,518-75,493,518 , GRCh37.p13 chr7|NW_003871064.1: 3,022,754-3,022,754 , GRCh37.p13 chr7: 75,122,838-75,122,838 SPDYE5
    nsv6009620copy number variation1nstd212human GRCh38 chr7: 75,501,475-75,501,546 , GRCh37.p13 chr7|NW_003871064.1: 3,030,711-3,030,782 , GRCh37.p13 chr7: 75,130,799-75,130,870 SPDYE5
    nsv5856564copy number variation1nstd209human GRCh38 chr7: 75,483,711-75,503,464 , GRCh37.p13 chr7|NW_003871064.1: 3,012,947-3,032,700 , GRCh37.p13 chr7: 75,112,988-75,132,788 SPDYE5, POM121C
    nsv5635327insertion1nstd207human GRCh38 chr7: 75,493,495-75,493,495 , GRCh37.p13 chr7|NW_003871064.1: 3,022,731-3,022,731 , GRCh37.p13 chr7: 75,122,773-75,122,773 SPDYE5
    nsv5625514insertion1nstd207human GRCh38 chr7: 75,499,834-75,499,834 , GRCh37.p13 chr7: 75,129,158-75,129,158 , GRCh37.p13 chr7|NW_003871064.1: 3,029,070-3,029,070 SPDYE5
    nsv5580658copy number variation1nstd207human GRCh38 chr7: 75,495,184-75,495,244 , GRCh37.p13 chr7|NW_003871064.1: 3,024,420-3,024,480 , GRCh37.p13 chr7: 75,124,503-75,124,563 SPDYE5
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