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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145143insertion1nstd232human GRCh37.p13 chr19: 50,370,889-50,370,889 , GRCh38.p12 chr19: 49,867,632-49,867,632 PNKP, AKT1S1
    nsv7075539inversion1nstd229human GRCh38 chr19: 48,377,786-50,073,353 , GRCh37.p13 chr19: 48,881,043-50,576,610 SNRNP70, PTOV1, 126 more genes
    nsv7075255inversion1nstd229human GRCh38 chr19: 49,270,356-54,089,823 , GRCh37.p13 chr19: 49,773,613-54,528,887 FPR2, SNAR-A11, 344 more genes
    nsv7074377inversion1nstd229human GRCh38 chr19: 41,965,396-49,981,454 , GRCh37.p13 chr19: 42,514,712-50,484,711 IGFL1, SYMPK, 400 more genes
    nsv7064925inversion1nstd229human GRCh38 chr19: 49,540,460-54,108,860 , GRCh37.p13 chr19: 50,043,717-54,528,887 DPRX, EMC10, 323 more genes
    nsv7064020inversion1nstd229human GRCh38 chr19: 48,004,601-50,148,757 , GRCh37.p13 chr19: 48,507,858-50,652,014 TEAD2, LHB, 155 more genes
    nsv7011869copy number variation1nstd229human GRCh38 chr19: 49,870,875-49,870,941 , GRCh37.p13 chr19: 50,374,132-50,374,198 AKT1S1
    nsv7009180copy number variation1nstd229human GRCh38 chr19: 49,863,737-49,867,109 , GRCh37.p13 chr19: 50,366,994-50,370,366 AKT1S1, PNKP
    nsv7001033copy number variation1nstd229human GRCh38 chr19: 49,796,501-49,923,300 , GRCh37.p13 chr19: 50,299,758-50,426,557 AP2A1, LOC105372435, 13 more genes
    nsv6595834inversion1nstd223human GRCh38 chr19: 48,004,600-50,148,749 , GRCh37.p13 chr19: 48,507,857-50,652,006 KDELR1, VRK3, 155 more genes
    nsv6532741copy number variation1nstd223human GRCh38 chr19: 49,865,794-49,918,001 , GRCh37.p13 chr19: 50,369,051-50,421,258 IL4I1, AKT1S1, 4 more genes
    nsv6314099copy number variation1nstd102humanUncertain significance GRCh37 chr19: 50,355,646-50,552,140 , GRCh38.p12 chr19: 49,852,389-50,048,883 IL4I1, SIGLEC11, 14 more genes
    nsv6313906copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 49,911,081-53,127,438 , GRCh38.p12 chr19: 49,407,824-52,624,185 AP2A1, KLK3, 212 more genes
    nsv6289508insertion3nstd214human GRCh38 chr19: 49,867,632-49,867,632 , GRCh37.p13 chr19: 50,370,889-50,370,889 PNKP, AKT1S1
    nsv6281765copy number variation1nstd214human GRCh38 chr19: 49,875,292-49,875,364 , GRCh37.p13 chr19: 50,378,549-50,378,621 AKT1S1
    nsv6211150copy number variation1nstd214human GRCh38 chr19: 49,875,293-49,875,364 , GRCh37.p13 chr19: 50,378,550-50,378,621 AKT1S1
    nsv6208070copy number variation1nstd214human GRCh38 chr19: 49,875,304-49,875,382 , GRCh37.p13 chr19: 50,378,561-50,378,639 AKT1S1
    nsv6133704copy number variation1nstd213human GRCh37 chr19: 45,030,000-55,230,001 , GRCh38.p12 chr19: 44,525,967-54,071,460 AP2A1, APOC1, 582 more genes
    nsv6123711copy number variation1nstd186human GRCh37 chr19: 50,370,889-50,370,958 , GRCh38.p12 chr19: 49,867,632-49,867,701 AKT1S1, PNKP
    nsv6110571inversion1nstd212human GRCh38 chr19: 47,903,487-50,091,196 , GRCh37.p13 chr19: 48,406,744-50,594,453 , AP2A1, 155 more genes
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