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Items: 1 to 20 of 109

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7077519inversion1nstd229human GRCh38 chr12: 86,495,718-92,133,299 , GRCh37.p13 chr12: 86,889,495-92,527,075 CEP290, MIR3059, 60 more genes
    nsv7060010inversion1nstd229human GRCh38 chr12: 86,085,575-91,207,469 , GRCh37.p13 chr12: 86,479,353-91,601,246 POC1B, C12orf50, 55 more genes
    nsv6928040copy number variation1nstd229human GRCh38 chr12: 89,000,906-89,054,082 , GRCh37.p13 chr12: 89,394,683-89,447,859 LINC02458, LOC100287355
    nsv6919009copy number variation1nstd229human GRCh38 chr12: 88,891,951-89,039,065 , GRCh37.p13 chr12: 89,285,728-89,432,842 LOC100287355, LINC02458
    nsv6462465copy number variation1nstd223human GRCh38 chr12: 89,013,301-89,015,300 , GRCh37.p13 chr12: 89,407,078-89,409,077 LINC02458
    nsv6309488copy number variation1nstd102humanUncertain significance GRCh37 chr12: 88,442,961-89,919,672 , GRCh38.p12 chr12: 88,049,184-89,525,895 RLIG1, LOC105369886, 20 more genes
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132715copy number variation1nstd213human GRCh37 chr12: 84,440,000-93,800,001 , GRCh38.p12 chr12: 84,046,221-93,406,225 , BTG1, 102 more genes
    nsv6132618copy number variation1nstd213human GRCh37 chr12: 88,390,000-89,480,001 , GRCh38.p12 chr12: 87,996,223-89,086,224 LOC101929554, LOC105369887, 13 more genes
    nsv5207495mobile element deletion1nstd204human GRCh38.p13 chr12: 89,016,951-89,017,264 , GRCh37.p13 chr12: 89,410,728-89,411,041 LINC02458
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv5032581inversion1nstd200human GRCh38 chr12: 67,763,754-90,678,993 , GRCh37.p13 chr12: 68,157,534-91,072,770 , LOC105369886, 255 more genes
    nsv4888823inversion1nstd200human GRCh37 chr12: 68,157,543-91,072,771 , GRCh38.p12 chr12: 67,763,763-90,678,994 , BEST3, 255 more genes
    nsv4886161inversion1nstd200human GRCh37 chr12: 70,180,810-110,320,027 , GRCh38.p12 chr12: 69,787,030-109,882,222 , LOC728739, 540 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4775123mobile element deletion1nstd200human GRCh37 chr12: 89,410,737-89,411,035 , GRCh38.p12 chr12: 89,016,960-89,017,258 LINC02458
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4683190copy number variation1nstd102humanPathogenic GRCh37 chr12: 88,910,111-89,985,072 , GRCh38.p12 chr12: 88,516,334-89,591,295 RNU1-117P, MRPS6P4, 15 more genes
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