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Items: 1 to 20 of 169

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv7094052copy number variation1nstd102humanUncertain significance GRCh37 chr12: 58,144,419-58,160,824 , GRCh38.p12 chr12: 57,750,636-57,767,041 MARCHF9, TSPAN31, 3 more genes
    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
    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
    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
    nsv6931699copy number variation1nstd229human GRCh38 chr12: 57,750,522-57,768,374 , GRCh37.p13 chr12: 58,144,305-58,162,157 CYP27B1, CDK4, 3 more genes
    nsv6923572copy number variation1nstd229human GRCh38 chr12: 57,760,282-57,760,545 , GRCh37.p13 chr12: 58,154,065-58,154,328 MARCHF9, CYP27B1
    nsv6637645copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,631,073-58,236,597 , GRCh38.p12 chr12: 57,237,290-57,842,814 CDK4, CYP27B1, 36 more genes
    nsv6595151inversion1nstd223human GRCh38 chr12: 56,690,071-66,057,684 , GRCh37.p13 chr12: 57,083,855-66,451,464 HMGA2-AS1, HSD17B6, 166 more genes
    nsv6592643inversion1nstd223human GRCh38 chr12: 56,690,340-66,057,683 , GRCh37.p13 chr12: 57,084,124-66,451,463 MIR10527, HMGA2, 165 more genes
    nsv6592389inversion1nstd223human GRCh38 chr12: 56,202,197-66,057,592 , GRCh37.p13 chr12: 56,595,981-66,451,372 RPL21P103, MIP, 194 more genes
    nsv6590334inversion1nstd223human GRCh38 chr12: 57,052,049-66,057,683 , GRCh37.p13 chr12: 57,445,833-66,451,463 RNU5A-7P, SLC26A10P, 153 more genes
    nsv6584140inversion1nstd223human GRCh38 chr12: 56,381,670-66,057,684 , GRCh37.p13 chr12: 56,775,454-66,451,464 RNU6-879P, KICS2, 180 more genes
    nsv6578359inversion1nstd223human GRCh38 chr12: 56,201,986-66,057,683 , GRCh37.p13 chr12: 56,595,770-66,451,463 AVIL, RPSAP52, 194 more genes
    nsv6577543inversion1nstd223human GRCh38 chr12: 56,676,741-66,057,683 , GRCh37.p13 chr12: 57,070,525-66,451,463 LINC02388, LOC105369795, 166 more genes
    nsv6577024inversion1nstd223human GRCh38 chr12: 56,201,970-66,057,680 , GRCh37.p13 chr12: 56,595,754-66,451,460 AVPR1A, LOC390332, 194 more genes
    nsv6576885inversion1nstd223human GRCh38 chr12: 56,344,988-66,057,676 , GRCh37.p13 chr12: 56,738,772-66,451,456 LOC105369786, MBD6, 184 more genes
    nsv6460753copy number variation1nstd223human GRCh38 chr12: 57,758,747-57,763,647 , GRCh37.p13 chr12: 58,152,530-58,157,430 MARCHF9, CYP27B1
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