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Items: 1 to 20 of 170

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7069963inversion1nstd229human GRCh38 chr22: 43,870,624-43,883,497 , GRCh37.p13 chr22: 44,266,504-44,279,377 PNPLA5
    nsv7063046inversion1nstd229human GRCh38 chr22: 43,798,624-43,898,271 , GRCh37.p13 chr22: 44,194,504-44,294,151 SULT4A1, PNPLA5, 3 more genes
    nsv7061959inversion1nstd229human GRCh38 chr22: 36,818,005-44,993,640 , GRCh37.p13 chr22: 37,214,049-45,389,520 SMIM45, A4GALT, 271 more genes
    nsv7032988copy number variation1nstd229human GRCh38 chr22: 43,884,137-43,892,601 , GRCh37.p13 chr22: 44,280,017-44,288,481 PNPLA5
    nsv7030452copy number variation1nstd229human GRCh38 chr22: 43,463,348-44,099,240 , GRCh37.p13 chr22: 43,859,242-44,495,120 RPL35AP36, EFCAB6-DT, 12 more genes
    nsv7029167copy number variation1nstd229human GRCh38 chr22: 43,878,261-43,881,788 , GRCh37.p13 chr22: 44,274,141-44,277,668 PNPLA5
    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
    nsv7026986copy number variation1nstd229human GRCh38 chr22: 43,771,301-43,918,600 , GRCh37.p13 chr22: 44,167,181-44,314,480 SULT4A1, EFCAB6, 3 more genes
    nsv7025351copy number variation1nstd229human GRCh38 chr22: 43,864,164-43,929,607 , GRCh37.p13 chr22: 44,260,044-44,325,487 PNPLA5, PNPLA3
    nsv7023806copy number variation1nstd229human GRCh38 chr22: 43,885,735-43,889,794 , GRCh37.p13 chr22: 44,281,615-44,285,674 PNPLA5
    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
    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
    nsv6555127copy number variation1nstd223human GRCh38 chr22: 43,885,735-43,889,790 , GRCh37.p13 chr22: 44,281,615-44,285,670 PNPLA5
    nsv6535893copy number variation1nstd223human GRCh38 chr22: 41,572,303-44,198,988 , GRCh37.p13 chr22: 41,968,307-44,594,868 , RPS25P10, 87 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
    nsv6134214copy number variation1nstd213human GRCh37 chr22: 40,070,000-44,960,001 , GRCh38.p12 chr22: 39,673,995-44,564,121 , ACO2, 148 more genes
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