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Items: 1 to 20 of 141

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5828349copy number variation1nstd209human GRCh38 chr1: 151,251,577-151,253,476 , GRCh37.p13 chr1: 151,224,053-151,225,952 PSMD4
    nsv5418174copy number variation1nstd206human GRCh38 chr1: 151,237,389-151,263,593 , GRCh37.p13 chr1: 151,209,865-151,236,069 PSMD4, PIP5K1A
    nsv5414056copy number variation1nstd206human GRCh38 chr1: 151,233,526-151,272,353 , GRCh37.p13 chr1: 151,206,002-151,244,829 PSMD4, PIP5K1A
    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
    nsv5381206copy number variation1nstd102humanUncertain significance GRCh37 chr1: 151,122,490-151,585,008 , GRCh38.p12 chr1: 151,150,014-151,612,532 CGN, ZNF687-AS1, 21 more genes
    nsv5299216copy number variation1nstd204human GRCh38.p13 chr1: 151,233,200-151,272,622 , GRCh37.p13 chr1: 151,205,676-151,245,098 PIP5K1A, PSMD4
    nsv5212690copy number variation1nstd204human GRCh38.p13 chr1: 151,258,872-151,271,833 , GRCh37.p13 chr1: 151,231,348-151,244,309 PSMD4
    nsv5208664copy number variation1nstd204human GRCh38.p13 chr1: 151,233,519-151,254,708 , GRCh37.p13 chr1: 151,205,995-151,227,184 PSMD4, PIP5K1A
    nsv5203503copy number variation1nstd204human GRCh38.p13 chr1: 151,255,688-151,260,642 , GRCh37.p13 chr1: 151,228,164-151,233,118 PSMD4
    nsv5061987mobile element insertion1nstd203human GRCh38 chr1: 151,256,356-151,256,364 , GRCh37.p13 chr1: 151,228,832-151,228,840 PSMD4
    nsv4894671copy number variation1nstd200human GRCh38 chr1: 151,247,922-151,258,283 , GRCh37.p13 chr1: 151,220,398-151,230,759 PIP5K1A, PSMD4
    nsv4894670copy number variation1nstd200human GRCh38 chr1: 151,233,448-151,272,402 , GRCh37.p13 chr1: 151,205,924-151,244,878 PIP5K1A, PSMD4
    nsv4781183copy number variation1nstd200human GRCh37 chr1: 151,220,398-151,230,759 , GRCh38.p12 chr1: 151,247,922-151,258,283 PSMD4, PIP5K1A
    nsv4781182copy number variation1nstd200human GRCh37 chr1: 151,205,924-151,244,878 , GRCh38.p12 chr1: 151,233,448-151,272,402 PIP5K1A, PSMD4
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4712598copy number variation1nstd195human GRCh37 chr1: 151,042,151-151,571,701 , GRCh38.p12 chr1: 151,069,675-151,599,225 PI4KB, PSMD4, 24 more genes
    nsv4459254mobile element insertion1nstd166human GRCh37.p13 chr1: 151,238,307-151,238,307 , GRCh38.p12 chr1: 151,265,831-151,265,831 PSMD4
    nsv4368436copy number variation1nstd173human GRCh37 chr1: 151,144,910-151,243,214 , GRCh38.p12 chr1: 151,172,434-151,270,738 PSMD4, VPS72, 2 more genes
    nsv4055761copy number variation1nstd166human GRCh37.p13 chr1: 151,232,383-151,232,463 , GRCh38.p12 chr1: 151,259,907-151,259,987 PSMD4
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