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Items: 1 to 20 of 193

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5944138copy number variation1nstd209human GRCh38 chr12: 130,807,400-130,807,570 , GRCh37.p13 chr12: 131,291,945-131,292,115 STX2
    nsv5853621copy number variation2nstd209human GRCh38 chr12: 130,835,703-130,836,702 , GRCh37.p13 chr12: 131,320,248-131,321,247 STX2
    nsv5501619copy number variation1nstd206human GRCh38 chr12: 130,804,804-130,804,859 , GRCh37.p13 chr12: 131,289,349-131,289,404 STX2
    nsv5126502mobile element insertion1nstd203human GRCh38 chr12: 130,835,889-130,835,905 , GRCh37.p13 chr12: 131,320,434-131,320,450 STX2
    nsv5006436copy number variation1nstd200human GRCh38 chr12: 130,839,206-130,839,271 , GRCh37.p13 chr12: 131,323,751-131,323,816 STX2
    nsv4993892copy number variation1nstd200human GRCh38 chr12: 130,837,773-130,838,081 , GRCh37.p13 chr12: 131,322,318-131,322,626 STX2
    nsv4993891copy number variation1nstd200human GRCh38 chr12: 130,828,532-130,834,238 , GRCh37.p13 chr12: 131,313,077-131,318,783 STX2
    nsv4617376copy number variation1nstd183human GRCh37 chr12: 130,808,282-131,277,031 , GRCh38.p12 chr12: 130,323,737-130,792,486 , STX2, 5 more genes
    nsv4529847copy number variation1nstd166human GRCh37.p13 chr12: 131,289,349-131,289,404 , GRCh38.p12 chr12: 130,804,804-130,804,859 STX2
    nsv4511923mobile element insertion1nstd166human GRCh37.p13 chr12: 131,285,171-131,285,171 , GRCh38.p12 chr12: 130,800,626-130,800,626 STX2
    nsv4456888copy number variation1nstd102humanUncertain significance GRCh37 chr12: 126,470,636-133,777,902 , GRCh38.p12 chr12: 125,986,090-133,201,316 LINC02347, LOC107987176, 145 more genes
    nsv4423027copy number variation1nstd174human GRCh37 chr12: 130,712,367-131,274,590 , GRCh38.p12 chr12: 130,227,822-130,790,045 , STX2, 6 more genes
    nsv4349911copy number variation1nstd102humanPathogenic GRCh37 chr12: 125,451,405-133,810,935 , GRCh38.p12 chr12: 124,966,859-133,234,349 LOC107987177, GOLGA3, 159 more genes
    nsv4231945copy number variation1nstd166human GRCh37.p13 chr12: 131,313,139-131,318,710 , GRCh38.p12 chr12: 130,828,594-130,834,165 STX2
    nsv4222117copy number variation1nstd166human GRCh37.p13 chr12: 131,264,637-131,274,054 , GRCh38.p12 chr12: 130,780,092-130,789,509 , STX2
    nsv4216686copy number variation1nstd166human GRCh37.p13 chr12: 131,315,150-131,315,207 , GRCh38.p12 chr12: 130,830,605-130,830,662 STX2
    nsv4213418copy number variation1nstd166human GRCh37.p13 chr12: 131,128,395-131,323,720 , GRCh38.p12 chr12: 130,643,850-130,839,175 , LOC105370080, 2 more genes
    nsv3924220copy number variation1nstd102humanPathogenic GRCh38 chr12: 115,131,583-133,166,920 , NCBI36 chr12: 114,053,771-132,253,579 , GRCh37 chr12: 115,569,388-133,743,506 LOC105370080, LINC02985, 376 more genes
    nsv3923347copy number variation1nstd102humanPathogenic NCBI36 chr12: 119,619,858-132,289,149 , GRCh37 chr12: 121,135,475-133,779,076 , GRCh38 chr12: 120,697,672-133,202,490 LOC105370044, RNU6-1017P, 273 more genes
    nsv3921909copy number variation1nstd102humanUncertain significance GRCh38 chr12: 130,648,435-130,806,970 , GRCh37 chr12: 131,132,980-131,291,515 , NCBI36 chr12: 129,698,933-129,857,468 LOC105370080, RIMBP2, 1 more genes
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