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Items: 1 to 20 of 160

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143345insertion1nstd232human GRCh37.p13 chr2: 224,828,651-224,828,651 , GRCh38.p12 chr2: 223,963,934-223,963,934 MRPL44
    nsv7055926inversion1nstd229human GRCh38 chr2: 223,723,053-227,096,551 , GRCh37.p13 chr2: 224,587,770-227,961,267 CUL3, MRPL44, 23 more genes
    nsv7047506inversion1nstd229human GRCh38 chr2: 222,618,340-223,958,759 , GRCh37.p13 chr2: 223,483,059-224,823,476 LOC105373903, LOC105373906, 22 more genes
    nsv7047209inversion1nstd229human GRCh38 chr2: 222,803,564-227,992,948 , GRCh37.p13 chr2: 223,668,283-228,857,664 MFF, LOC100289117, 55 more genes
    nsv7043640inversion1nstd229human GRCh38 chr2: 222,841,128-228,011,478 , GRCh37.p13 chr2: 223,705,846-228,876,194 MFF-DT, LOC105373905, 55 more genes
    nsv6693619copy number variation1nstd229human GRCh38 chr2: 223,862,117-224,002,420 , GRCh37.p13 chr2: 224,726,834-224,867,137 GTF3AP3, WDFY1, 2 more genes
    nsv6693307copy number variation1nstd229human GRCh38 chr2: 223,897,602-223,978,996 , GRCh37.p13 chr2: 224,762,319-224,843,713 MRPL44, GTF3AP3, 2 more genes
    nsv6692641copy number variation1nstd229human GRCh38 chr2: 223,951,401-223,953,500 , GRCh37.p13 chr2: 224,816,118-224,818,217 MRPL44
    nsv6687469copy number variation1nstd229human GRCh38 chr2: 223,943,489-223,978,642 , GRCh37.p13 chr2: 224,808,206-224,843,359 MRPL44, SERPINE2, 1 more genes
    nsv6685461copy number variation1nstd229human GRCh38 chr2: 223,953,247-223,968,437 , GRCh37.p13 chr2: 224,817,964-224,833,154 MRPL44
    nsv6683047copy number variation1nstd229human GRCh38 chr2: 223,959,958-223,962,462 , GRCh37.p13 chr2: 224,824,675-224,827,179 MRPL44
    nsv6682061copy number variation1nstd229human GRCh38 chr2: 223,942,160-223,996,919 , GRCh37.p13 chr2: 224,806,877-224,861,636 MRPL44, WDFY1, 1 more genes
    nsv6344997copy number variation1nstd223human GRCh38 chr2: 223,951,384-223,953,416 , GRCh37.p13 chr2: 224,816,101-224,818,133 MRPL44
    nsv6342198copy number variation1nstd223human GRCh38 chr2: 223,960,028-223,960,538 , GRCh37.p13 chr2: 224,824,745-224,825,255 MRPL44
    nsv6341818copy number variation1nstd223human GRCh38 chr2: 223,953,274-223,968,419 , GRCh37.p13 chr2: 224,817,991-224,833,136 MRPL44
    nsv6338328copy number variation1nstd223human GRCh38 chr2: 223,959,956-223,962,459 , GRCh37.p13 chr2: 224,824,673-224,827,176 MRPL44
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315345copy number variation1nstd102humanPathogenic GRCh37 chr2: 222,902,251-226,084,516 , GRCh38.p12 chr2: 222,037,532-225,219,799 LOC105373911, LOC105373908, 43 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 LOC105373947, RN7SL764P, 357 more genes
    nsv6313588copy number variation1nstd102humanUncertain significance GRCh37 chr2: 224,487,310-224,882,397 , GRCh38.p12 chr2: 223,622,593-224,017,680 AP1S3, MRPL44, 4 more genes
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