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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
    nsv7145741copy number variation1nstd232human GRCh37.p13 chr12: 57,908,838-57,908,928 , GRCh38.p12 chr12: 57,515,055-57,515,145 DDIT3, MARS1
    nsv7144689insertion1nstd232human GRCh37.p13 chr12: 57,892,405-57,892,405 , GRCh38.p12 chr12: 57,498,622-57,498,622 MARS1
    nsv7142714copy number variation1nstd232human GRCh37.p13 chr12: 57,910,120-57,910,216 , GRCh38.p12 chr12: 57,516,337-57,516,433 DDIT3, MARS1
    nsv7142351insertion1nstd232human GRCh37.p13 chr12: 57,884,163-57,884,163 , GRCh38.p12 chr12: 57,490,380-57,490,380 MARS1
    nsv7142086copy number variation1nstd232human GRCh37.p13 chr12: 57,901,176-57,901,305 , GRCh38.p12 chr12: 57,507,393-57,507,522 MARS1
    nsv7141841copy number variation1nstd232human GRCh37.p13 chr12: 57,883,126-57,883,203 , GRCh38.p12 chr12: 57,489,343-57,489,420 MARS1
    nsv7137900copy number variation1nstd232human GRCh37.p13 chr12: 57,908,633-57,908,734 , GRCh38.p12 chr12: 57,514,850-57,514,951 DDIT3, MARS1
    nsv7098889copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,064,059-59,314,016 , GRCh38.p12 chr12: 56,670,275-58,920,235 CDK4, CYP27B1, 77 more genes
    nsv7094150copy number variation2nstd102humanUncertain significance GRCh37 chr12: 57,906,514-57,976,962 , GRCh38.p12 chr12: 57,512,731-57,583,179 MARS1, MIR6758, 5 more genes
    nsv7094149copy number variation1nstd102humanUncertain significance GRCh37 chr12: 57,894,084-57,894,325 , GRCh38.p12 chr12: 57,500,301-57,500,542 MARS1
    nsv7094051copy number variation1nstd102humanUncertain significance GRCh37 chr12: 57,883,659-57,884,447 , GRCh38.p12 chr12: 57,489,876-57,490,664 MARS1
    nsv7093976copy number variation1nstd102humanUncertain significance GRCh37 chr12: 57,534,470-58,190,366 , GRCh38.p12 chr12: 57,140,687-57,796,583 KIF5A, AGAP2-AS1, 37 more genes
    nsv7093483insertion1nstd102humanUncertain significance GRCh38 chr12: 57,512,917-57,512,917 , GRCh37 chr12: 57,906,700-57,906,700 MARS1, MIR6758
    nsv7074641inversion1nstd229human GRCh38 chr12: 52,659,002-59,632,575 , GRCh37.p13 chr12: 53,052,786-60,026,356 , LOC105369777, 292 more genes
    nsv7071931inversion1nstd229human GRCh38 chr12: 55,156,710-64,781,897 , GRCh37.p13 chr12: 55,550,494-65,175,677 ZBTB39, MIR548Z, 236 more genes
    nsv7071326inversion1nstd229human GRCh38 chr12: 57,462,473-57,493,864 , GRCh37.p13 chr12: 57,856,256-57,887,647 MARS1, ARHGAP9, 1 more genes
    nsv7068987inversion1nstd229human GRCh38 chr12: 56,649,721-58,539,946 , GRCh37.p13 chr12: 57,043,505-58,933,729 GIHCG, LOC101927608, 72 more genes
    nsv6933297copy number variation1nstd229human GRCh38 chr12: 57,414,401-57,814,000 , GRCh37.p13 chr12: 57,808,184-58,207,783 MIR6759, INHBE, 31 more genes
    nsv6922712copy number variation1nstd229human GRCh38 chr12: 57,489,599-57,496,446 , GRCh37.p13 chr12: 57,883,382-57,890,229 MARS1
    nsv6922656copy number variation1nstd229human GRCh38 chr12: 57,507,823-57,510,258 , GRCh37.p13 chr12: 57,901,606-57,904,041 MARS1
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