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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5038383inversion1nstd200human GRCh38 chr2: 222,072,838-224,063,267 , GRCh37.p13 chr2: 222,937,557-224,927,984 GAPDHP49, ACSL3-AS1, 31 more genes
    nsv4917101copy number variation1nstd200human GRCh38 chr2: 223,959,958-223,962,459 , GRCh37.p13 chr2: 224,824,675-224,827,176 MRPL44
    nsv4917100copy number variation1nstd200human GRCh38 chr2: 223,952,362-223,953,806 , GRCh37.p13 chr2: 224,817,079-224,818,523 MRPL44
    nsv4917099copy number variation1nstd200human GRCh38 chr2: 223,951,391-223,953,416 , GRCh37.p13 chr2: 224,816,108-224,818,133 MRPL44
    nsv4917094copy number variation1nstd200human GRCh38 chr2: 223,804,754-224,066,342 , GRCh37.p13 chr2: 224,669,471-224,931,059 MRPL44, AP1S3, 3 more genes
    nsv4913977copy number variation1nstd200human GRCh38 chr2: 223,942,160-223,996,914 , GRCh37.p13 chr2: 224,806,877-224,861,631 WDFY1, SERPINE2, 1 more genes
    nsv4913976copy number variation1nstd200human GRCh38 chr2: 223,897,601-223,979,001 , GRCh37.p13 chr2: 224,762,318-224,843,718 MRPL44, GTF3AP3, 2 more genes
    nsv4885260inversion1nstd200human GRCh37 chr2: 222,937,557-224,927,984 , GRCh38.p12 chr2: 222,072,838-224,063,267 CCDC140, WDFY1, 31 more genes
    nsv4806058copy number variation1nstd200human GRCh37 chr2: 224,816,108-224,818,133 , GRCh38.p12 chr2: 223,951,391-223,953,416 MRPL44
    nsv4806057copy number variation1nstd200human GRCh37 chr2: 224,669,471-224,931,059 , GRCh38.p12 chr2: 223,804,754-224,066,342 SERPINE2, GTF3AP3, 3 more genes
    nsv4804649copy number variation1nstd200human GRCh37 chr2: 224,806,877-224,861,638 , GRCh38.p12 chr2: 223,942,160-223,996,921 WDFY1, SERPINE2, 1 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
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 more genes
    nsv4386401copy number variation1nstd173human GRCh37 chr2: 224,757,317-224,843,401 , GRCh38.p12 chr2: 223,892,600-223,978,684 MRPL44, WDFY1, 2 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
    nsv4074523copy number variation1nstd166human GRCh37.p13 chr2: 224,816,108-224,818,133 , GRCh38.p12 chr2: 223,951,391-223,953,416 MRPL44
    nsv3968850insertion1nstd168human GRCh38 chr2: 223,960,368-223,961,410 , GRCh37.p13 chr2: 224,825,085-224,826,127 MRPL44
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