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Items: 1 to 20 of 220

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5977899inversion1nstd209human GRCh38 chr2: 227,539,323-230,369,909 , GRCh37.p13 chr2: 228,404,039-231,234,624 , AGFG1, 40 more genes
    nsv5889790copy number variation1nstd209human GRCh38 chr2: 227,713,167-227,714,419 , GRCh37.p13 chr2: 228,577,883-228,579,135 SLC19A3
    nsv5888363copy number variation1nstd209human GRCh38 chr2: 227,666,825-227,728,355 , GRCh37.p13 chr2: 228,531,541-228,593,071 SLC19A3
    nsv5832228copy number variation1nstd209human GRCh38 chr2: 227,713,035-227,714,384 , GRCh37.p13 chr2: 228,577,751-228,579,100 SLC19A3
    nsv5832227copy number variation1nstd209human GRCh38 chr2: 227,712,285-227,713,584 , GRCh37.p13 chr2: 228,577,001-228,578,300 SLC19A3
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5366854translocation1nstd200human GRCh38 chr2: 227,698,551-227,698,551 , GRCh38 chr2: 227,702,640-227,702,640 , GRCh37.p13 chr2: 228,567,356-228,567,356 , GRCh37.p13 chr2: 228,563,267-228,563,267 SLC19A3
    nsv5366853translocation1nstd200human GRCh38 chr2: 227,702,215-227,702,215 , GRCh38 chr2: 227,696,206-227,696,206 , GRCh37.p13 chr2: 228,566,931-228,566,931 , GRCh37.p13 chr2: 228,560,922-228,560,922 SLC19A3
    nsv5202160copy number variation1nstd204human GRCh38.p13 chr2: 227,681,812-227,708,167 , GRCh37.p13 chr2: 228,546,528-228,572,883 SLC19A3
    nsv5201956copy number variation1nstd204human GRCh38.p13 chr2: 227,203,501-228,263,700 , GRCh37.p13 chr2: 228,068,217-229,128,416 C2orf83, CCL20, 19 more genes
    nsv5074468mobile element insertion1nstd203human GRCh38 chr2: 227,705,163-227,705,180 , GRCh37.p13 chr2: 228,569,879-228,569,896 SLC19A3
    nsv5039254inversion1nstd200human GRCh38 chr2: 227,539,122-230,370,113 , GRCh37.p13 chr2: 228,403,838-231,234,828 , LOC105373921, 40 more genes
    nsv5034248inversion1nstd200human GRCh38 chr2: 227,453,477-228,061,560 , GRCh37.p13 chr2: 228,318,193-228,926,276 C2orf83, LOC100533842, 12 more genes
    nsv4917234copy number variation1nstd200human GRCh38 chr2: 227,717,535-227,722,343 , GRCh37.p13 chr2: 228,582,251-228,587,059 SLC19A3
    nsv4917233copy number variation1nstd200human GRCh38 chr2: 227,713,179-227,714,420 , GRCh37.p13 chr2: 228,577,895-228,579,136 SLC19A3
    nsv4917229copy number variation1nstd200human GRCh38 chr2: 227,648,369-227,699,282 , GRCh37.p13 chr2: 228,513,085-228,563,998 LOC100420667, SLC19A3
    nsv4914012copy number variation1nstd200human GRCh38 chr2: 227,630,985-227,791,277 , GRCh37.p13 chr2: 228,495,701-228,655,993 SNRPGP8, LOC100420667, 3 more genes
    nsv4885505inversion1nstd200human GRCh37 chr2: 228,318,193-228,926,276 , GRCh38.p12 chr2: 227,453,477-228,061,560 C2orf83, CCL20, 12 more genes
    nsv4806148copy number variation1nstd200human GRCh37 chr2: 228,577,895-228,579,136 , GRCh38.p12 chr2: 227,713,179-227,714,420 SLC19A3
    nsv4804667copy number variation1nstd200human GRCh37 chr2: 228,576,728-228,607,751 , GRCh38.p12 chr2: 227,712,012-227,743,035 SLC19A3
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