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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6644766copy number variation1nstd229human GRCh38 chr1: 171,622,389-171,629,450 , GRCh37.p13 chr1: 171,591,529-171,598,590 MYOCOS
    nsv6644765copy number variation1nstd229human GRCh38 chr1: 171,564,330-172,954,419 , GRCh37.p13 chr1: 171,533,469-172,923,559 LOC107985225, RPS15P3, 27 more genes
    nsv6644694copy number variation1nstd229human GRCh38 chr1: 171,614,779-171,627,532 , GRCh37.p13 chr1: 171,583,919-171,596,672 MYOCOS
    nsv6636536copy number variation1nstd102humanUncertain significance GRCh37 chr1: 171,186,446-171,907,499 , GRCh38.p12 chr1: 171,217,307-171,938,359 METTL13, MYOC, 22 more genes
    nsv6625916copy number variation1nstd224human GRCh37 chr1: 171,576,573-171,608,466 , GRCh38.p12 chr1: 171,607,433-171,639,326 MYOC, MYOCOS
    nsv6316743copy number variation1nstd223human GRCh38 chr1: 171,620,824-171,624,307 , GRCh37.p13 chr1: 171,589,964-171,593,447 MYOCOS
    nsv6313602copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,391,422-171,843,613 , GRCh38.p12 chr1: 167,422,185-171,874,473 DCAF6, SELE, 101 more genes
    nsv6133941copy number variation1nstd213human GRCh37 chr1: 171,410,000-171,700,001 , GRCh38.p12 chr1: 171,440,861-171,730,861 MYOC, VAMP4, 6 more genes
    nsv6133940copy number variation1nstd213human GRCh37 chr1: 170,740,000-173,330,001 , GRCh38.p12 chr1: 170,770,859-173,360,862 TNFSF4, VAMP4, 50 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133567copy number variation1nstd213human GRCh37 chr1: 170,760,000-174,730,001 , GRCh38.p12 chr1: 170,790,859-174,760,863 FASLG, SERPINC1, 87 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4594077copy number variation1nstd183human GRCh37 chr1: 171,016,086-171,726,961 , GRCh38.p12 chr1: 171,046,945-171,757,821 MYOCOS, PFN1P1, 23 more genes
    nsv4579979copy number variation1nstd183human GRCh37 chr1: 171,557,154-171,719,518 , GRCh38.p12 chr1: 171,588,015-171,750,378 MYOC, VAMP4, 5 more genes
    nsv4579615copy number variation1nstd183human GRCh37 chr1: 171,578,076-171,610,740 , GRCh38.p12 chr1: 171,608,936-171,641,600 MYOC, MYOCOS
    nsv4454750copy number variation1nstd102humanUncertain significance GRCh37 chr1: 171,575,046-171,613,658 , GRCh38.p12 chr1: 171,605,906-171,644,518 MYOC, MYOCOS
    nsv4454493copy number variation1nstd102humanUncertain significance GRCh37 chr1: 171,578,593-171,610,586 , GRCh38.p12 chr1: 171,609,453-171,641,446 MYOC, MYOCOS
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