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Items: 1 to 20 of 224

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147269copy number variation1nstd232human GRCh37.p13 chr12: 46,591,599-46,591,699 , GRCh38.p12 chr12: 46,197,816-46,197,916 SLC38A1
    nsv7061440inversion1nstd229human GRCh38 chr12: 46,219,878-46,225,565 , GRCh37.p13 chr12: 46,613,661-46,619,348 SLC38A1
    nsv6936806copy number variation1nstd229human GRCh38 chr12: 46,248,927-46,251,098 , GRCh37.p13 chr12: 46,642,710-46,644,881 SLC38A1
    nsv6935978copy number variation1nstd229human GRCh38 chr12: 46,183,390-46,183,964 , GRCh37.p13 chr12: 46,577,173-46,577,747 SLC38A1
    nsv6934558copy number variation1nstd229human GRCh38 chr12: 46,231,079-46,235,527 , GRCh37.p13 chr12: 46,624,862-46,629,310 SLC38A1
    nsv6934085copy number variation1nstd229human GRCh38 chr12: 46,217,188-46,319,013 , GRCh37.p13 chr12: 46,610,971-46,712,796 SLC38A1, LOC105378248
    nsv6930041copy number variation1nstd229human GRCh38 chr12: 46,219,001-46,260,500 , GRCh37.p13 chr12: 46,612,784-46,654,283 SLC38A1
    nsv6925290copy number variation1nstd229human GRCh38 chr12: 46,237,418-46,238,081 , GRCh37.p13 chr12: 46,631,201-46,631,864 SLC38A1
    nsv6921868copy number variation1nstd229human GRCh38 chr12: 46,264,982-46,265,108 , GRCh37.p13 chr12: 46,658,765-46,658,891 SLC38A1
    nsv6919787copy number variation1nstd229human GRCh38 chr12: 46,230,507-46,234,467 , GRCh37.p13 chr12: 46,624,290-46,628,250 SLC38A1
    nsv6634445copy number variation1nstd102humanPathogenic GRCh37 chr12: 44,661,149-48,921,204 , GRCh38.p12 chr12: 44,267,366-48,527,421 ZNF641, MIR4698, 77 more genes
    nsv6472860copy number variation1nstd223human GRCh38 chr12: 46,259,666-46,260,447 , GRCh37.p13 chr12: 46,653,449-46,654,230 SLC38A1
    nsv6467913copy number variation1nstd223human GRCh38 chr12: 46,203,035-46,203,903 , GRCh37.p13 chr12: 46,596,818-46,597,686 SLC38A1
    nsv6462163copy number variation1nstd223human GRCh38 chr12: 46,253,640-46,258,257 , GRCh37.p13 chr12: 46,647,423-46,652,040 SLC38A1
    nsv6459820copy number variation1nstd223human GRCh38 chr12: 46,193,094-46,193,426 , GRCh37.p13 chr12: 46,586,877-46,587,209 SLC38A1
    nsv6458838copy number variation1nstd223human GRCh38 chr12: 46,237,378-46,238,290 , GRCh37.p13 chr12: 46,631,161-46,632,073 SLC38A1
    nsv6457666copy number variation1nstd223human GRCh38 chr12: 46,248,927-46,251,095 , GRCh37.p13 chr12: 46,642,710-46,644,878 SLC38A1
    nsv6457461copy number variation1nstd223human GRCh38 chr12: 46,253,684-46,258,227 , GRCh37.p13 chr12: 46,647,467-46,652,010 SLC38A1
    nsv6132248copy number variation1nstd213human GRCh37 chr12: 45,960,000-49,240,001 , GRCh38.p12 chr12: 45,566,217-48,846,218 LALBA, VDR, 83 more genes
    nsv6095861insertion1nstd212human GRCh38 chr12: 46,254,033-46,254,033 , GRCh37.p13 chr12: 46,647,816-46,647,816 SLC38A1
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