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Items: 1 to 20 of 390

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7061103inversion1nstd229human GRCh38 chr8: 30,587,417-30,587,446 , GRCh37.p13 chr8: 30,444,934-30,444,963 GTF2E2
    nsv6857309copy number variation1nstd229human GRCh38 chr8: 30,560,464-30,578,537 , GRCh37.p13 chr8: 30,417,981-30,436,054 RBPMS, GTF2E2
    nsv6855489copy number variation1nstd229human GRCh38 chr8: 30,613,801-30,624,000 , GRCh37.p13 chr8: 30,471,318-30,481,517 GTF2E2
    nsv6854358copy number variation1nstd229human GRCh38 chr8: 30,588,965-30,595,502 , GRCh37.p13 chr8: 30,446,482-30,453,019 GTF2E2
    nsv6854189copy number variation1nstd229human GRCh38 chr8: 30,614,909-30,623,975 , GRCh37.p13 chr8: 30,472,426-30,481,492 GTF2E2
    nsv6853664copy number variation1nstd229human GRCh38 chr8: 30,618,501-30,625,600 , GRCh37.p13 chr8: 30,476,018-30,483,117 GTF2E2
    nsv6853118copy number variation1nstd229human GRCh38 chr8: 30,626,364-30,628,677 , GRCh37.p13 chr8: 30,483,881-30,486,194 GTF2E2
    nsv6847188copy number variation1nstd229human GRCh38 chr8: 30,619,497-30,625,635 , GRCh37.p13 chr8: 30,477,014-30,483,152 GTF2E2
    nsv6845957copy number variation1nstd229human GRCh38 chr8: 30,605,001-30,638,300 , GRCh37.p13 chr8: 30,462,518-30,495,817 SMIM18, GTF2E2
    nsv6845044copy number variation1nstd229human GRCh38 chr8: 30,589,065-30,599,703 , GRCh37.p13 chr8: 30,446,582-30,457,220 GTF2E2
    nsv6842927copy number variation1nstd229human GRCh38 chr8: 30,586,659-30,586,711 , GRCh37.p13 chr8: 30,444,176-30,444,228 GTF2E2
    nsv6841908copy number variation1nstd229human GRCh38 chr8: 30,646,901-30,669,100 , GRCh37.p13 chr8: 30,504,418-30,526,617 GTF2E2
    nsv6841065copy number variation1nstd229human GRCh38 chr8: 30,653,801-30,829,800 , GRCh37.p13 chr8: 30,511,318-30,687,316 PPP2CB, GTF2E2, 5 more genes
    nsv6841058copy number variation1nstd229human GRCh38 chr8: 30,642,848-30,677,920 , GRCh37.p13 chr8: 30,500,365-30,535,437 RNU5A-3P, SMIM18, 2 more genes
    nsv6839985copy number variation1nstd229human GRCh38 chr8: 28,051,949-30,854,206 , GRCh37.p13 chr8: 27,909,466-30,711,722 PPP2CB, RNU6-1218P, 59 more genes
    nsv6839415copy number variation1nstd229human GRCh38 chr8: 30,605,338-30,606,273 , GRCh37.p13 chr8: 30,462,855-30,463,790 GTF2E2
    nsv6637025copy number variation1nstd102humanPathogenic GRCh37 chr8: 26,808,969-38,346,383 , GRCh38.p12 chr8: 26,951,452-38,488,865 LINC02948, LOC105379354, 185 more genes
    nsv6636650copy number variation1nstd102humanUncertain significance GRCh37 chr8: 30,459,775-30,564,837 , GRCh38.p12 chr8: 30,602,258-30,707,320 SMIM18, GTF2E2, 2 more genes
    nsv6634301complex substitution1nstd102humanPathogenic GRCh38.p12 chr8: 208,048-43,132,174 , GRCh37 chr8: 158,048-42,987,317 NAT1, NAT2, 758 more genes
    nsv6572010inversion1nstd223human GRCh38 chr8: 30,602,016-30,602,765 , GRCh37.p13 chr8: 30,459,533-30,460,282 GTF2E2
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