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Items: 1 to 20 of 162

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7093975copy number variation1nstd102humanPathogenic GRCh37 chr12: 53,714,329-53,715,249 , GRCh38.p12 chr12: 53,320,545-53,321,465 AAAS
    nsv7074641inversion1nstd229human GRCh38 chr12: 52,659,002-59,632,575 , GRCh37.p13 chr12: 53,052,786-60,026,356 , LOC105369777, 292 more genes
    nsv7069901inversion1nstd229human GRCh38 chr12: 51,176,082-54,825,440 , GRCh37.p13 chr12: 51,569,865-55,219,224 , HOXC5, 158 more genes
    nsv7068478inversion1nstd229human GRCh38 chr12: 53,302,427-53,318,318 , GRCh37.p13 chr12: 53,696,211-53,712,102 MYG1, AAAS
    nsv6922364copy number variation1nstd229human GRCh38 chr12: 53,292,413-53,324,602 , GRCh37.p13 chr12: 53,686,197-53,718,386 ESPL1, MYG1, 4 more genes
    nsv6920171copy number variation1nstd229human GRCh38 chr12: 53,311,268-53,313,402 , GRCh37.p13 chr12: 53,705,052-53,707,186 AAAS
    nsv6621363copy number variation1nstd224human GRCh37 chr12: 53,677,203-53,715,153 , GRCh38.p12 chr12: 53,283,419-53,321,369 MYG1, AAAS, 3 more genes
    nsv6577651inversion1nstd223human GRCh38 chr12: 53,312,122-53,313,095 , GRCh37.p13 chr12: 53,705,906-53,706,879 AAAS
    nsv6455911copy number variation1nstd223human GRCh38 chr12: 53,311,487-53,312,785 , GRCh37.p13 chr12: 53,705,271-53,706,569 AAAS
    nsv6309272copy number variation1nstd102humanUncertain significance GRCh37 chr12: 53,708,062-53,729,430 , GRCh38.p12 chr12: 53,314,278-53,335,646 AAAS, SP7
    nsv6188837copy number variation1nstd214human GRCh38 chr12: 53,317,152-53,317,282 , GRCh37.p13 chr12: 53,710,936-53,711,066 AAAS
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132426copy number variation1nstd213human GRCh37 chr12: 52,740,000-55,260,001 , GRCh38.p12 chr12: 52,346,216-54,866,217 , HOXC4, 122 more genes
    nsv6028367copy number variation1nstd212human GRCh38 chr12: 53,313,364-53,313,498 , GRCh37.p13 chr12: 53,707,148-53,707,282 AAAS
    nsv5555255sequence alteration1nstd206human GRCh38 chr12: 53,306,612-53,307,373 , GRCh37.p13 chr12: 53,700,396-53,701,157 AAAS, MYG1
    nsv5549478insertion1nstd206human GRCh38 chr12: 53,306,613-53,306,613 , GRCh37.p13 chr12: 53,700,397-53,700,397 MYG1, AAAS
    nsv5495067copy number variation1nstd206human GRCh38 chr12: 53,316,498-53,317,275 , GRCh37.p13 chr12: 53,710,282-53,711,059 AAAS
    nsv5269754copy number variation1nstd204human GRCh38.p13 chr12: 53,319,601-53,446,000 , GRCh37.p13 chr12: 53,713,385-53,839,784 SP7, PRR13, 3 more genes
    nsv5266008copy number variation1nstd204human GRCh38.p13 chr12: 53,248,501-53,495,800 , GRCh37.p13 chr12: 53,642,285-53,889,584 PCBP2, AAAS, 11 more genes
    nsv5133801mobile element insertion1nstd203human GRCh38 chr12: 53,316,764-53,316,785 , GRCh37.p13 chr12: 53,710,548-53,710,569 AAAS
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