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Items: 1 to 20 of 152

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099244copy number variation1nstd231human GRCh38.p12 chr1: 166,864,890-169,028,321 , GRCh37 chr1: 166,834,127-168,997,559 CD247, DPT, 49 more genes
    nsv6644261copy number variation1nstd229human GRCh38 chr1: 168,231,909-168,410,386 , GRCh37.p13 chr1: 168,201,147-168,379,624 MIR557, SFT2D2, 5 more genes
    nsv6644256copy number variation1nstd229human GRCh38 chr1: 168,110,598-170,953,728 , GRCh37.p13 chr1: 168,079,836-170,922,869 SELL, RPL7AP21, 55 more genes
    nsv6644210copy number variation1nstd229human GRCh38 chr1: 168,264,901-168,622,100 , GRCh37.p13 chr1: 168,234,139-168,591,338 XCL1, LOC100505918, 8 more genes
    nsv6540250inversion1nstd223human GRCh38 chr1: 163,441,141-169,028,378 , GRCh37.p13 chr1: 163,410,931-168,997,616 LOC107985452, NMNAT1P2, 96 more genes
    nsv6322493copy number variation1nstd223human GRCh38 chr1: 168,231,902-168,410,441 , GRCh37.p13 chr1: 168,201,140-168,379,679 ANKRD36BP1, RNU6-1310P, 5 more genes
    nsv6313719copy number variation1nstd102humanPathogenic GRCh37 chr1: 162,330,810-171,532,331 , GRCh38.p12 chr1: 162,361,020-171,563,192 LOC100420658, LOC105371610, 167 more genes
    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
    nsv6133937copy number variation1nstd213human GRCh37 chr1: 167,800,000-169,660,001 , GRCh38.p12 chr1: 167,830,762-169,690,860 XCL2, TBX19, 38 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
    nsv6133597copy number variation1nstd213human GRCh37 chr1: 167,470,000-170,370,001 , GRCh38.p12 chr1: 167,500,763-170,400,860 CD247, XCL1, 64 more genes
    nsv6133565copy number variation1nstd213human GRCh37 chr1: 164,310,000-170,640,001 , GRCh38.p12 chr1: 164,340,763-170,670,860 ATP1B1, DPT, 126 more genes
    nsv5420780copy number variation1nstd206human GRCh38 chr1: 168,370,710-168,374,479 , GRCh37.p13 chr1: 168,339,948-168,343,717 MIR557
    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
    nsv5041452inversion1nstd200human GRCh38 chr1: 163,441,139-169,028,376 , GRCh37.p13 chr1: 163,410,929-168,997,614 , RPS17P6, 97 more genes
    nsv4784604copy number variation1nstd200human GRCh37 chr1: 168,339,948-168,343,717 , GRCh38.p12 chr1: 168,370,710-168,374,479 MIR557
    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
    nsv4728711copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 164,608,682-169,216,098 , GRCh38.p12 chr1: 164,639,445-169,246,860 ALDH9A1, ATP1B1, 95 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
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