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Items: 1 to 20 of 548

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7141449copy number variation1nstd232human GRCh37.p13 chr22: 45,964,295-45,964,389 , GRCh38.p12 chr22: 45,568,415-45,568,509 FBLN1
    nsv7074464inversion1nstd229human GRCh38 chr22: 43,918,591-49,788,574 , GRCh37.p13 chr22: 44,314,471-50,182,222 LOC107985536, LINC02939, 94 more genes
    nsv7067801inversion1nstd229human GRCh38 chr22: 45,553,000-46,041,330 , GRCh37.p13 chr22: 45,948,880-46,437,210 ATXN10, WNT7B, 12 more genes
    nsv7064468inversion1nstd229human GRCh38 chr22: 45,531,820-45,540,446 , GRCh37.p13 chr22: 45,927,700-45,936,326 FBLN1
    nsv7036246copy number variation1nstd229human GRCh38 chr22: 45,583,173-45,586,319 , GRCh37.p13 chr22: 45,979,053-45,982,199 FBLN1
    nsv7035282copy number variation1nstd229human GRCh38 chr22: 45,499,401-45,501,800 , GRCh37.p13 chr22: 45,895,281-45,897,680 FBLN1, LOC105373066
    nsv7032681copy number variation1nstd229human GRCh38 chr22: 45,535,134-45,535,317 , GRCh37.p13 chr22: 45,931,014-45,931,197 FBLN1
    nsv7031347copy number variation1nstd229human GRCh38 chr22: 45,543,526-45,547,082 , GRCh37.p13 chr22: 45,939,406-45,942,962 FBLN1
    nsv7029981copy number variation1nstd229human GRCh38 chr22: 45,540,835-45,871,617 , GRCh37.p13 chr22: 45,936,715-46,267,497 ATXN10, LINC01589, 7 more genes
    nsv7027741copy number variation1nstd229human GRCh38 chr22: 39,432,386-49,047,389 , GRCh37.p13 chr22: 39,828,391-49,443,201 LOC105373064, ACO2, 233 more genes
    nsv7026779copy number variation1nstd229human GRCh38 chr22: 45,240,226-45,656,784 , GRCh37.p13 chr22: 45,636,107-46,052,664 RNU6-1161P, LOC105373067, 12 more genes
    nsv7025283copy number variation1nstd229human GRCh38 chr22: 44,970,256-48,899,837 , GRCh37.p13 chr22: 45,366,136-49,295,649 TAFA5, TRMU, 65 more genes
    nsv7020691copy number variation1nstd229human GRCh38 chr22: 45,577,111-45,600,305 , GRCh37.p13 chr22: 45,972,991-45,996,185 FBLN1
    nsv7020227copy number variation1nstd229human GRCh38 chr22: 45,587,466-45,590,806 , GRCh37.p13 chr22: 45,983,346-45,986,686 FBLN1
    nsv6638073copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,436,847-51,188,164 , GRCh38.p12 chr22: 43,040,841-50,749,736 SCUBE1-AS1, MIR6821, 165 more genes
    nsv6637969copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,178,749-51,183,840 , GRCh38.p12 chr22: 43,782,869-50,745,412 LOC105373081, RPL35AP36, 148 more genes
    nsv6637767copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,390,702-51,137,629 , GRCh38.p12 chr22: 43,994,822-50,699,201 RN7SKP252, CDPF1, 139 more genes
    nsv6637710copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,977,448-51,197,838 , GRCh38.p12 chr22: 45,581,568-50,759,410 PKDREJ, MAPK11, 110 more genes
    nsv6637484copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,977,415-51,183,840 , GRCh38.p12 chr22: 45,581,535-50,745,412 MIR6821, LOC105373086, 108 more genes
    nsv6637355copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,889,148-51,197,838 , GRCh38.p12 chr22: 45,493,268-50,759,410 LOC105373068, SYCE3, 111 more genes
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