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Items: 1 to 20 of 214

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5977136inversion1nstd209human GRCh38 chr2: 46,610,553-46,613,141 , GRCh37.p13 chr2: 46,837,692-46,840,280 PIGF
    nsv5869290copy number variation1nstd209human GRCh38 chr2: 46,610,674-46,617,767 , GRCh37.p13 chr2: 46,837,813-46,844,906 PIGF, CRIPT
    nsv5832683copy number variation1nstd209human GRCh38 chr2: 46,613,613-46,617,586 , GRCh37.p13 chr2: 46,840,752-46,844,725 PIGF, CRIPT
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5439891copy number variation1nstd206human GRCh38 chr2: 46,616,100-46,712,363 , GRCh37.p13 chr2: 46,843,239-46,939,502 PIGF, CRIPT, 2 more genes
    nsv5375461translocation1nstd200human GRCh38 chr2: 46,583,119-46,583,119 , GRCh38 chr6: 54,853,410-54,853,410 , GRCh37.p13 chr2: 46,810,258-46,810,258 , GRCh37.p13 chr6: 54,718,208-54,718,208 PIGF, RHOQ, 1 more genes
    nsv4908621copy number variation1nstd200human GRCh38 chr2: 46,484,270-46,704,600 , GRCh37.p13 chr2: 46,711,409-46,931,739 TMEM247, RHOQ-AS1, 6 more genes
    nsv4908618copy number variation1nstd200human GRCh38 chr2: 46,160,490-47,827,162 , GRCh37.p13 chr2: 46,387,629-48,054,301 , PRKCE, 38 more genes
    nsv4907888copy number variation1nstd200human GRCh38 chr2: 46,612,605-46,618,149 , GRCh37.p13 chr2: 46,839,744-46,845,288 CRIPT, PIGF
    nsv4907887copy number variation1nstd200human GRCh38 chr2: 46,609,052-46,609,242 , GRCh37.p13 chr2: 46,836,191-46,836,381 PIGF
    nsv4907886copy number variation1nstd200human GRCh38 chr2: 46,584,868-46,590,990 , GRCh37.p13 chr2: 46,812,007-46,818,129 RHOQ, PIGF
    nsv4786269copy number variation1nstd200human GRCh37 chr2: 46,813,596-46,813,748 , GRCh38.p12 chr2: 46,586,457-46,586,609 PIGF
    nsv4674640copy number variation1nstd102humanUncertain significance GRCh37 chr2: 46,179,259-47,646,894 , GRCh38.p12 chr2: 45,952,120-47,419,755 PRKCE, STPG4, 30 more genes
    nsv4584024copy number variation1nstd183human GRCh37 chr2: 46,842,361-46,846,766 , GRCh38.p12 chr2: 46,615,222-46,619,627 PIGF, CRIPT
    nsv4518675copy number variation1nstd166human GRCh37.p13 chr2: 46,829,012-46,829,075 , GRCh38.p12 chr2: 46,601,873-46,601,936 PIGF
    nsv4466547mobile element insertion1nstd166human GRCh37.p13 chr2: 46,808,591-46,808,591 , GRCh38.p12 chr2: 46,581,452-46,581,452 PIGF, RHOQ
    nsv4347266copy number variation1nstd102humanPathogenic GRCh37 chr2: 46,844,284-46,844,565 , GRCh38.p12 chr2: 46,617,145-46,617,426 PIGF, CRIPT
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4331174inversion1nstd166human GRCh37.p13 chr2: 36,139,982-53,112,348 , GRCh38.p12 chr2: 35,914,916-52,885,210 , ASS1P2, 247 more genes
    nsv4070904copy number variation1nstd166human GRCh37.p13 chr2: 46,826,212-46,861,653 , GRCh38.p12 chr2: 46,599,073-46,634,514 CRIPT, PIGF
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