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Items: 1 to 20 of 174

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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
    nsv7028506copy number variation1nstd229human GRCh38 chr22: 44,866,025-45,000,250 , GRCh37.p13 chr22: 45,261,905-45,396,131 LOC101927551, RPL6P28, 1 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
    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
    nsv7024339copy number variation1nstd229human GRCh38 chr22: 44,987,718-45,003,064 , GRCh37.p13 chr22: 45,383,598-45,398,945 PHF21B, LOC101927551
    nsv7020851copy number variation1nstd229human GRCh38 chr22: 44,996,499-45,002,405 , GRCh37.p13 chr22: 45,392,379-45,398,286 PHF21B, LOC101927551
    nsv7019859copy number variation1nstd229human GRCh38 chr22: 44,598,397-45,146,061 , GRCh37.p13 chr22: 44,994,277-45,541,942 PRR5-ARHGAP8, NUP50-DT, 9 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
    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
    nsv6597991inversion1nstd223human GRCh38 chr22: 43,335,838-45,080,470 , GRCh37.p13 chr22: 43,731,844-45,476,351 , LOC105373060, 35 more genes
    nsv6596723inversion1nstd223human GRCh38 chr22: 43,336,006-45,080,499 , GRCh37.p13 chr22: 43,732,012-45,476,380 , PNPLA5, 35 more genes
    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
    nsv6134590copy number variation1nstd213human GRCh37 chr22: 44,520,000-47,030,001 , GRCh38.p12 chr22: 44,124,120-46,634,104 FBLN1, PPARA, 65 more genes
    nsv6134069copy number variation1nstd213human GRCh37 chr22: 45,020,000-48,940,001 , GRCh38.p12 chr22: 44,624,120-48,544,189 FBLN1, PPARA, 71 more genes
    nsv5552528copy number variation1nstd206human GRCh38 chr22: 44,999,979-45,000,167 , GRCh37.p13 chr22: 45,395,860-45,396,048 PHF21B, LOC101927551
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