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Items: 1 to 20 of 265

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098949copy number variation1nstd102humanUncertain significance GRCh38 chr22: 44,184,196-45,239,435 , GRCh37.p13 chr22: 44,580,076-45,635,316 PARVG, RTL6, 22 more genes
    nsv7074464inversion1nstd229human GRCh38 chr22: 43,918,591-49,788,574 , GRCh37.p13 chr22: 44,314,471-50,182,222 LOC107985536, LINC02939, 94 more genes
    nsv7066559inversion1nstd229human GRCh38 chr22: 45,151,914-45,290,044 , GRCh37.p13 chr22: 45,547,795-45,685,925 UPK3A, RPS10P31, 5 more genes
    nsv7059765inversion1nstd229human GRCh38 chr22: 45,117,963-45,332,454 , GRCh37.p13 chr22: 45,513,844-45,728,335 NUP50, KIAA0930, 6 more genes
    nsv7030961copy number variation1nstd229human GRCh38 chr22: 45,182,333-45,192,830 , GRCh37.p13 chr22: 45,578,214-45,588,711 NUP50, KIAA0930, 1 more genes
    nsv7029431copy number variation1nstd229human GRCh38 chr22: 45,155,972-45,467,297 , GRCh37.p13 chr22: 45,551,853-45,863,178 KIAA0930, RIBC2, 9 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
    nsv7025983copy number variation1nstd229human GRCh38 chr22: 45,181,494-45,181,533 , GRCh37.p13 chr22: 45,577,375-45,577,414 NUP50, LOC105373064
    nsv7025383copy number variation1nstd229human GRCh38 chr22: 45,176,477-45,177,323 , GRCh37.p13 chr22: 45,572,358-45,573,204 LOC105373064, NUP50
    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
    nsv7024051copy number variation1nstd229human GRCh38 chr22: 45,136,231-45,263,672 , GRCh37.p13 chr22: 45,532,112-45,659,553 NUP50, MIR1249, 3 more genes
    nsv7019088copy number variation1nstd229human GRCh38 chr22: 44,553,219-45,475,745 , GRCh37.p13 chr22: 44,949,099-45,871,626 PHF21B, LOC105373064, 21 more genes
    nsv7018111copy number variation1nstd229human GRCh38 chr22: 45,117,901-45,278,900 , GRCh37.p13 chr22: 45,513,782-45,674,781 MIR1249, NUP50-DT, 4 more genes
    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
    nsv6549507copy number variation1nstd223human GRCh38 chr22: 45,184,993-45,185,709 , GRCh37.p13 chr22: 45,580,874-45,581,590 LOC105373064, NUP50
    nsv6314059copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,972,719-51,197,838 , GRCh38.p12 chr22: 42,576,713-50,759,410 TRABD, LOC100422416, 181 more genes
    nsv6313968copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,451,316-46,662,660 , GRCh38.p12 chr22: 43,055,310-46,266,763 EFCAB6-DT, LOC107985535, 82 more genes
    nsv6290298copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,321,321-51,244,066 , GRCh38.p12 chr22: 41,925,317-50,805,638 CERK, LINC01315, 212 more genes
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