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Items: 1 to 20 of 234

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096367copy number variation1nstd102humanUncertain significance GRCh37 chr2: 136,545,894-136,875,630 , GRCh38.p12 chr2: 135,788,324-136,118,060 DARS1-AS1, LCT, 5 more genes
    nsv7095856copy number variation1nstd102humanUncertain significance GRCh37 chr2: 135,809,878-136,875,630 , GRCh38.p12 chr2: 135,052,308-136,118,060 G3BP1P1, UBXN4, 14 more genes
    nsv6694307copy number variation1nstd229human GRCh38 chr2: 135,750,511-136,163,087 , GRCh37.p13 chr2: 136,508,081-136,920,657 CXCR4, LCT-AS1, 6 more genes
    nsv6692775copy number variation1nstd229human GRCh38 chr2: 135,625,001-135,859,100 , GRCh37.p13 chr2: 136,382,571-136,616,670 LCT-AS1, RNU6-512P, 6 more genes
    nsv6688706copy number variation1nstd229human GRCh38 chr2: 135,839,301-135,839,436 , GRCh37.p13 chr2: 136,596,871-136,597,006 MCM6
    nsv6687550copy number variation1nstd229human GRCh38 chr2: 135,865,301-135,868,700 , GRCh37.p13 chr2: 136,622,871-136,626,270 MCM6
    nsv6684909copy number variation1nstd229human GRCh38 chr2: 135,782,601-135,846,600 , GRCh37.p13 chr2: 136,540,171-136,604,170 UBXN4, LCT, 2 more genes
    nsv6679692copy number variation1nstd229human GRCh38 chr2: 128,625,642-138,426,614 , GRCh37.p13 chr2: 129,383,216-139,184,184 MTND4P27, LOC646674, 194 more genes
    nsv6539409inversion1nstd223human GRCh38 chr2: 135,858,192-135,859,913 , GRCh37.p13 chr2: 136,615,762-136,617,483 MCM6
    nsv6539110inversion1nstd223human GRCh38 chr2: 135,837,441-135,837,732 , GRCh37.p13 chr2: 136,595,011-136,595,302 MCM6, LCT
    nsv6353082copy number variation1nstd223human GRCh38 chr2: 135,750,511-136,163,087 , GRCh37.p13 chr2: 136,508,081-136,920,657 DARS1, LCT, 6 more genes
    nsv6343109copy number variation1nstd223human GRCh38 chr2: 128,625,639-138,426,614 , GRCh37.p13 chr2: 129,383,213-139,184,184 CYP4F30P, CCDC74B, 194 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6297827copy number variation1nstd186human GRCh37 chr2: 136,596,871-136,597,020 , GRCh38.p12 chr2: 135,839,301-135,839,450 MCM6
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
    nsv6290867copy number variation1nstd102humanPathogenic GRCh37 chr2: 122,699,106-143,799,629 , GRCh38.p12 chr2: 121,941,530-143,042,060 RNU6-675P, RNU6-1049P, 300 more genes
    nsv6157710copy number variation1nstd214human GRCh38 chr2: 135,862,268-135,862,330 , GRCh37.p13 chr2: 136,619,838-136,619,900 MCM6
    nsv6156985copy number variation1nstd214human GRCh38 chr2: 135,862,259-135,862,348 , GRCh37.p13 chr2: 136,619,829-136,619,918 MCM6
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