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Items: 1 to 20 of 207

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv5969901insertion1nstd209human GRCh38 chr12: 2,829,907-2,829,907 , GRCh37.p13 chr12: 2,939,073-2,939,073 NRIP2, ITFG2
    nsv5713601mobile element insertion2nstd211human GRCh38 chr12: 2,828,300-2,828,300 , GRCh37.p13 chr12: 2,937,466-2,937,466 NRIP2, ITFG2
    nsv5647360insertion1nstd207human GRCh38 chr12: 2,829,907-2,829,907 , GRCh37.p13 chr12: 2,939,073-2,939,073 ITFG2, NRIP2
    nsv5540002insertion1nstd206human GRCh38 chr12: 2,829,934-2,829,934 , GRCh37.p13 chr12: 2,939,100-2,939,100 ITFG2, NRIP2
    nsv5419496mobile element insertion1nstd206human GRCh38 chr12: 2,828,300-2,828,351 , GRCh37.p13 chr12: 2,937,466-2,937,517 NRIP2, ITFG2
    nsv5348518translocation1nstd200human GRCh38 chr12: 2,830,850-2,830,850 , GRCh38 chr12: 2,830,788-2,830,788 , GRCh37.p13 chr12: 2,940,016-2,940,016 , GRCh37.p13 chr12: 2,939,954-2,939,954 NRIP2, ITFG2
    nsv5269681copy number variation1nstd204human GRCh38.p13 chr12: 2,821,979-2,824,478 , GRCh37.p13 chr12: 2,931,145-2,933,644 ITFG2, NRIP2
    nsv5125646mobile element insertion1nstd203human GRCh38 chr12: 2,829,830-2,829,866 , GRCh37.p13 chr12: 2,938,996-2,939,032 NRIP2, ITFG2
    nsv5125008mobile element insertion1nstd203human GRCh38 chr12: 2,829,866-2,829,913 , GRCh37.p13 chr12: 2,939,032-2,939,079 NRIP2, ITFG2
    nsv5121975mobile element insertion1nstd203human GRCh38 chr12: 2,829,848-2,829,866 , GRCh37.p13 chr12: 2,939,014-2,939,032 NRIP2, ITFG2
    nsv4971865copy number variation1nstd200human GRCh38 chr12: 2,830,073-2,831,563 , GRCh37.p13 chr12: 2,939,239-2,940,729 ITFG2, NRIP2
    nsv4830245copy number variation1nstd200human GRCh37 chr12: 2,939,249-2,940,710 , GRCh38.p12 chr12: 2,830,083-2,831,544 NRIP2, ITFG2
    nsv4760891insertion1nstd199human GRCh37 chr12: 2,939,082-2,939,082 , GRCh38.p12 chr12: 2,829,916-2,829,916 ITFG2, NRIP2
    nsv4729176copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,242-4,683,495 , GRCh38.p12 chr12: 82,076-4,574,329 RPL18P9, CACNA1C, 92 more genes
    nsv4724561insertion1nstd186human GRCh37 chr12: 2,944,356-2,944,356 , GRCh38.p12 chr12: 2,835,190-2,835,190 ITFG2, NRIP2
    nsv4723127insertion1nstd186human GRCh37 chr12: 2,939,032-2,939,032 , GRCh38.p12 chr12: 2,829,866-2,829,866 ITFG2, NRIP2
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 LOC105376675, ATF7IP, 682 more genes
    nsv4551752insertion1nstd166human GRCh37.p13 chr12: 2,939,032-2,939,032 , GRCh38.p12 chr12: 2,829,866-2,829,866 ITFG2, NRIP2
    nsv4457052copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-6,346,092 , GRCh38.p12 chr12: 64,620-6,236,926 TSPAN9, RNU6-174P, 118 more genes
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