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Items: 1 to 20 of 196

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148213copy number variation1nstd102humanPathogenic GRCh38 chr19: 54,152,129-54,161,358 , GRCh37.p13 chr19|NW_004166865.1: 126,496-135,725 TMC4, LOC102724273, 2 more genes
    nsv7069393inversion1nstd229human GRCh38 chr19: 53,026,789-54,633,410 , GRCh37.p13 chr19: 53,530,042-54,528,887 MIR512-2, LILRB3, 145 more genes
    nsv7065131inversion1nstd229human GRCh38 chr19: 52,267,822-54,176,069 , GRCh37.p13 chr19: 52,771,075-54,528,887 ERVV-1, NDUFA3, 149 more genes
    nsv7060687inversion1nstd229human GRCh38 chr19: 53,785,748-54,383,705 , GRCh37.p13 chr19|NW_004166865.1: 1-358,072 MBOAT7, VSTM1, 36 more genes
    nsv7016057copy number variation1nstd229human GRCh38 chr19: 54,173,148-54,173,205 , GRCh37.p13 chr19|NW_004166865.1: 147,515-147,572 MBOAT7, TMC4
    nsv7013251copy number variation1nstd229human GRCh38 chr19: 54,165,701-54,173,700 , GRCh37.p13 chr19|NW_004166865.1: 140,068-148,067 MBOAT7, TMC4
    nsv7005216copy number variation1nstd229human GRCh38 chr19: 54,162,471-54,167,939 , GRCh37.p13 chr19|NW_004166865.1: 136,838-142,306 TMC4
    nsv6599207inversion1nstd223human GRCh38 chr19: 53,839,120-54,950,754 , GRCh37.p13 chr19|NW_004166865.1: 1-925,122 FCAR, KIR2DL1, 64 more genes
    nsv6597416inversion1nstd223human GRCh38 chr19: 53,217,793-54,175,150 , GRCh37.p13 chr19: 53,721,046-54,528,887 CACNG7, MIR371B, 110 more genes
    nsv6530259copy number variation1nstd223human GRCh38 chr19: 54,076,630-54,265,819 , GRCh37.p13 chr19|NW_004166865.1: 50,997-240,186 LOC107985279, RNU6-1307P, 16 more genes
    nsv6529176copy number variation1nstd223human GRCh38 chr19: 54,158,965-54,159,525 , GRCh37.p13 chr19|NW_004166865.1: 133,332-133,892 LENG1, TMC4
    nsv6519046copy number variation1nstd223human GRCh38 chr19: 54,166,862-54,167,431 , GRCh37.p13 chr19|NW_004166865.1: 141,229-141,798 TMC4
    nsv6310493copy number variation1nstd102humanUncertain significance GRCh37 chr19: 54,297,303-55,678,016 , GRCh38.p12 chr19|NT_187693.1: 134,805-894,467 , GRCh38.p12 chr19: 53,794,049-55,166,648 PRPF31, TSEN34, 80 more genes
    nsv6217891copy number variation1nstd214human GRCh38 chr19: 54,172,168-54,172,315 , GRCh37.p13 chr19|NW_004166865.1: 146,535-146,682 , MBOAT7, 1 more genes
    nsv6215314copy number variation1nstd214human GRCh38 chr19: 54,172,430-54,172,496 , GRCh37.p13 chr19|NW_004166865.1: 146,797-146,863 , MBOAT7, 1 more genes
    nsv6146752copy number variation1nstd206human GRCh38 chr19: 54,134,874-54,159,874 , GRCh37.p13 chr19|NW_004166865.1: 109,241-134,241 TMC4, LOC102724273, 2 more genes
    nsv6146236copy number variation1nstd206human GRCh38 chr19: 54,149,874-54,158,874 , GRCh37.p13 chr19|NW_004166865.1: 124,241-133,241 TMC4, LOC102724273, 2 more genes
    nsv6111877insertion1nstd212human GRCh38 chr19: 54,171,094-54,171,094 , GRCh37.p13 chr19|NW_004166865.1: 145,461-145,461 , TMC4
    nsv6104563insertion1nstd212human GRCh38 chr19: 54,168,808-54,168,808 , GRCh37.p13 chr19|NW_004166865.1: 143,175-143,175 TMC4
    nsv6047298copy number variation1nstd212human GRCh38 chr19: 54,172,216-54,172,437 , GRCh37.p13 chr19|NW_004166865.1: 146,583-146,804 , MBOAT7, 1 more genes
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