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Items: 1 to 20 of 236

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5904708copy number variation1nstd209human GRCh38 chr2: 227,325,426-227,328,675 , GRCh37.p13 chr2: 228,190,142-228,193,391 MFF-DT, MFF
    nsv5903381copy number variation1nstd209human GRCh38 chr2: 227,330,844-227,332,415 , GRCh37.p13 chr2: 228,195,560-228,197,131 MFF
    nsv5897147copy number variation1nstd209human GRCh38 chr2: 227,328,789-227,329,604 , GRCh37.p13 chr2: 228,193,505-228,194,320 MFF
    nsv5895248copy number variation1nstd209human GRCh38 chr2: 227,332,588-227,340,290 , GRCh37.p13 chr2: 228,197,304-228,205,006 STIP1P2, MFF
    nsv5893101copy number variation1nstd209human GRCh38 chr2: 227,329,781-227,330,622 , GRCh37.p13 chr2: 228,194,497-228,195,338 MFF
    nsv5622606insertion1nstd207human GRCh38 chr2: 227,325,429-227,325,429 , GRCh37.p13 chr2: 228,190,145-228,190,145 MFF, MFF-DT
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5440602copy number variation1nstd206human GRCh38 chr2: 227,329,645-227,330,623 , GRCh37.p13 chr2: 228,194,361-228,195,339 MFF
    nsv5377362translocation1nstd200human GRCh38 chr2: 227,357,830-227,357,830 , GRCh38 chr15: 93,296,484-93,296,484 , GRCh37.p13 chr15: 93,839,713-93,839,713 , GRCh37.p13 chr2: 228,222,546-228,222,546 MFF, LOC105370982
    nsv5220152copy number variation1nstd204human GRCh38.p13 chr2: 227,357,524-227,376,281 , GRCh37.p13 chr2: 228,222,240-228,240,997 MFF, TM4SF20
    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
    nsv5192239mobile element insertion1nstd203human GRCh38 chr2: 227,349,932-227,349,948 , GRCh37.p13 chr2: 228,214,648-228,214,664 MFF
    nsv5063079mobile element insertion1nstd203human GRCh38 chr2: 227,329,212-227,329,220 , GRCh37.p13 chr2: 228,193,928-228,193,936 MFF
    nsv4914007copy number variation1nstd200human GRCh38 chr2: 227,282,133-227,329,315 , GRCh37.p13 chr2: 228,146,849-228,194,031 MFF, MFF-DT, 1 more genes
    nsv4728759copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 226,027,074-229,110,812 , GRCh38.p12 chr2: 225,162,357-228,246,096 COL4A3, COL4A4, 28 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4707645copy number variation1nstd195human GRCh37 chr2: 228,195,560-228,195,561 , GRCh38.p12 chr2: 227,330,844-227,330,845 MFF
    nsv4707215copy number variation1nstd195human GRCh37 chr2: 228,194,497-228,194,498 , GRCh38.p12 chr2: 227,329,781-227,329,782 MFF
    nsv4673966copy number variation1nstd102humanLikely benign GRCh37 chr2: 228,113,195-228,189,776 , GRCh38.p12 chr2: 227,248,479-227,325,060 MFF, COL4A3, 1 more genes
    nsv4650979copy number variation1nstd186human GRCh37 chr2: 228,193,505-228,194,321 , GRCh38.p12 chr2: 227,328,789-227,329,605 MFF
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