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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5677941mobile element insertion1nstd211human GRCh38 chr1: 152,883,987-152,883,987 , GRCh37.p13 chr1: 152,856,463-152,856,463 SMCP
    nsv5617061insertion1nstd207human GRCh38 chr1: 152,880,979-152,880,979 , GRCh37.p13 chr1: 152,853,455-152,853,455 SMCP
    nsv5541590insertion1nstd206human GRCh38 chr1: 152,880,990-152,881,030 , GRCh37.p13 chr1: 152,853,466-152,853,506 SMCP
    nsv5422361copy number variation1nstd206human GRCh38 chr1: 152,832,587-152,881,000 , GRCh37.p13 chr1: 152,805,063-152,853,476 LCE6A, LOC105371444, 2 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5347239translocation1nstd200human GRCh38 chr1: 152,881,383-152,881,383 , GRCh38 chr7: 71,905,824-71,905,824 , GRCh37.p13 chr7: 71,370,809-71,370,809 , GRCh37.p13 chr1: 152,853,859-152,853,859 SMCP, CALN1
    nsv4903881copy number variation1nstd200human GRCh38 chr1: 152,873,366-152,998,846 , GRCh37.p13 chr1: 152,845,842-152,971,322 SMCP, SPRR4, 3 more genes
    nsv4897427copy number variation1nstd200human GRCh38 chr1: 152,876,964-152,877,112 , GRCh37.p13 chr1: 152,849,440-152,849,588 SMCP
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4754897insertion1nstd199human GRCh37 chr1: 152,853,459-152,853,459 , GRCh38.p12 chr1: 152,880,983-152,880,983 SMCP
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4708287copy number variation1nstd195human GRCh38.p12 chr1: 152,836,175-152,936,925 , GRCh37 chr1: 152,808,651-152,909,401 IVL, SMCP, 4 more genes
    nsv4518402copy number variation1nstd166human GRCh37.p13 chr1: 152,648,171-153,289,950 , GRCh38.p12 chr1: 152,675,695-153,317,474 SPRR2D, SMCP, 36 more genes
    nsv4444952insertion1nstd175human GRCh37 chr1: 152,853,455-152,853,455 , GRCh38.p12 chr1: 152,880,979-152,880,979 SMCP
    nsv4399777copy number variation1nstd174human GRCh37 chr1: 152,803,950-152,855,431 , GRCh38.p12 chr1: 152,831,474-152,882,955 SMCP, LCE6A, 2 more genes
    nsv4371231copy number variation1nstd173human GRCh37 chr1: 152,811,170-152,853,702 , GRCh38.p12 chr1: 152,838,694-152,881,226 LOC105371444, LCE6A, 2 more genes
    nsv4065547copy number variation1nstd166human GRCh37.p13 chr1: 152,808,850-152,854,000 , GRCh38.p12 chr1: 152,836,374-152,881,524 LOC105371444, LCE6A, 2 more genes
    nsv4064437copy number variation1nstd166human GRCh37.p13 chr1: 152,772,000-152,865,000 , GRCh38.p12 chr1: 152,799,524-152,892,524 SMCP, LCE1A, 5 more genes
    nsv4057740copy number variation1nstd166human GRCh37.p13 chr1: 152,849,440-152,849,588 , GRCh38.p12 chr1: 152,876,964-152,877,112 SMCP
    nsv3933882insertion1nstd167human GRCh37 chr1: 152,853,455-152,853,455 , GRCh38.p12 chr1: 152,880,979-152,880,979 SMCP
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