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Items: 1 to 20 of 429

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145627insertion1nstd232human GRCh37.p13 chr2: 100,058,932-100,058,932 , GRCh38.p12 chr2: 99,442,470-99,442,470 REV1
    nsv7051246inversion1nstd229human GRCh38 chr2: 99,001,430-99,852,801 , GRCh37.p13 chr2: 99,617,893-100,469,263 EIF5B, MITD1, 12 more genes
    nsv7048355inversion1nstd229human GRCh38 chr2: 99,460,366-99,467,962 , GRCh37.p13 chr2: 100,076,828-100,084,424 REV1
    nsv6697919copy number variation1nstd229human GRCh38 chr2: 99,411,669-99,412,060 , GRCh37.p13 chr2: 100,028,131-100,028,522 REV1
    nsv6697610copy number variation1nstd229human GRCh38 chr2: 99,418,732-99,583,219 , GRCh37.p13 chr2: 100,035,194-100,199,681 REV1, AFF3
    nsv6697243copy number variation1nstd229human GRCh38 chr2: 99,487,264-99,488,570 , GRCh37.p13 chr2: 100,103,726-100,105,032 REV1
    nsv6693929copy number variation1nstd229human GRCh38 chr2: 99,453,090-99,457,411 , GRCh37.p13 chr2: 100,069,552-100,073,873 REV1
    nsv6692663copy number variation1nstd229human GRCh38 chr2: 99,345,404-99,441,195 , GRCh37.p13 chr2: 99,961,867-100,057,657 EIF5B, REV1
    nsv6692102copy number variation1nstd229human GRCh38 chr2: 99,436,701-99,449,300 , GRCh37.p13 chr2: 100,053,163-100,065,762 REV1
    nsv6689217copy number variation1nstd229human GRCh38 chr2: 99,391,201-99,432,300 , GRCh37.p13 chr2: 100,007,664-100,048,762 EIF5B, REV1
    nsv6686838copy number variation1nstd229human GRCh38 chr2: 99,490,081-99,495,124 , GRCh37.p13 chr2: 100,106,543-100,111,586 REV1
    nsv6684549copy number variation1nstd229human GRCh38 chr2: 99,359,774-99,466,408 , GRCh37.p13 chr2: 99,976,237-100,082,870 REV1, EIF5B
    nsv6683986copy number variation1nstd229human GRCh38 chr2: 99,478,581-99,481,950 , GRCh37.p13 chr2: 100,095,043-100,098,412 REV1
    nsv6636315copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 95,341,388-100,340,514 , GRCh38.p12 chr2: 94,675,663-99,724,052 ADRA2B, ATP5F1BP1, 130 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6628432copy number variation1nstd224human GRCh37 chr2: 99,861,865-100,210,642 , GRCh38.p12 chr2: 99,245,402-99,594,180 AFF3, EIF5B, 5 more genes
    nsv6553571inversion1nstd223human GRCh38 chr2: 99,217,675-99,677,499 , GRCh37.p13 chr2: 99,834,138-100,293,961 AFF3, EIF5B, 5 more genes
    nsv6549979inversion1nstd223human GRCh38 chr2: 99,411,269-99,411,658 , GRCh37.p13 chr2: 100,027,731-100,028,120 REV1
    nsv6544920inversion1nstd223human GRCh38 chr2: 99,416,911-99,417,144 , GRCh37.p13 chr2: 100,033,373-100,033,606 REV1
    nsv6541222inversion1nstd223human GRCh38 chr2: 99,411,129-99,411,576 , GRCh37.p13 chr2: 100,027,591-100,028,038 REV1
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