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Items: 1 to 20 of 52

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6314480insertion1nstd102humanPathogenic GRCh37 chr19: 51,853,594-51,853,594 , GRCh38 chr19: 51,350,340-51,350,340 ETFB
    nsv7093352copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 51,856,232-51,856,420 , GRCh38 chr19: 51,352,978-51,353,166 ETFB
    nsv7095220copy number variation1nstd102humanUncertain significance GRCh37 chr19: 51,848,465-51,856,564 , GRCh38.p12 chr19: 51,345,211-51,353,310 ETFB
    nsv3908848copy number variation1nstd102humanLikely benign GRCh37 chr19: 51,840,736-51,853,666 , GRCh38.p12 chr19: 51,337,482-51,350,412 ETFB, VSIG10L
    nsv3895150copy number variation1nstd102humanLikely benign GRCh37 chr19: 51,840,736-51,870,742 , GRCh38.p12 chr19: 51,337,482-51,367,488 ETFB, CLDND2, 1 more genes
    nsv3912952copy number variation1nstd102humanPathogenic NCBI36 chr12: 25,308,034-34,108,730 , GRCh38 chr12: 25,263,833-34,064,528 , GRCh37 chr12: 25,416,767-34,217,463 LOC101060058, LOC101928735, 125 more genes
    nsv7095288copy number variation1nstd102humanPathogenic GRCh37 chr19: 51,727,962-51,890,697 , GRCh38.p12 chr19: 51,224,706-51,387,443 ETFB, LOC107985327, 13 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 RNA5SP369, ST13P22, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 LOH12CR2, OR8S21P, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 RNU4ATAC16P, PIGAP1, 2452 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 BTG1P1, LOC105370073, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 OR5BT1P, RECQL, 2441 more genes
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 ETFB, ZNF321P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 ETFB, BABAM1, 2426 more genes
    nsv3903092copy number variation2nstd102humanPathogenic GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521 ETFB, LENG8, 2408 more genes
    nsv3914427copy number variation1nstd102humanPathogenic NCBI36 chr12: 18,636-36,150,744 , GRCh37.p13 chr12: 148,375-37,864,477 , GRCh38.p12 chr12: 43,334-37,470,675 LOC105369667, ELOCP31, 684 more genes
    nsv3905633copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-37,869,301 , GRCh38.p12 chr12: 64,620-37,475,499 RESF1, LOC100418939, 684 more genes
    nsv3897151copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-37,869,107 , GRCh38.p12 chr12: 64,620-37,475,305 CACNA2D4, CDCA3, 684 more genes
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 LOC105376675, ATF7IP, 682 more genes
    nsv3924262copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,835,837 , GRCh38 chr12: 64,620-34,682,902 , NCBI36 chr12: 44,047-34,727,104 ENO2, SLC6A13, 684 more genes
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