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Items: 1 to 20 of 269

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv6695775copy number variation1nstd229human GRCh38 chr2: 186,734,455-186,736,551 , GRCh37.p13 chr2: 187,599,182-187,601,278 FAM171B
    nsv6691357copy number variation1nstd229human GRCh38 chr2: 186,746,101-186,791,400 , GRCh37.p13 chr2: 187,610,828-187,656,127 FAM171B
    nsv6691047copy number variation1nstd229human GRCh38 chr2: 186,706,901-186,714,300 , GRCh37.p13 chr2: 187,571,628-187,579,027 FAM171B
    nsv6689559copy number variation1nstd229human GRCh38 chr2: 186,715,031-186,746,978 , GRCh37.p13 chr2: 187,579,758-187,611,705 FAM171B
    nsv6689392copy number variation1nstd229human GRCh38 chr2: 186,745,201-186,791,500 , GRCh37.p13 chr2: 187,609,928-187,656,227 FAM171B
    nsv6686615copy number variation1nstd229human GRCh38 chr2: 186,737,101-186,851,600 , GRCh37.p13 chr2: 187,601,828-187,716,327 FAM171B, ZSWIM2
    nsv6686297copy number variation1nstd229human GRCh38 chr2: 186,690,243-186,693,777 , GRCh37.p13 chr2: 187,554,970-187,558,504 FAM171B
    nsv6683910copy number variation1nstd229human GRCh38 chr2: 186,367,519-187,333,914 , GRCh37.p13 chr2: 187,232,246-188,198,641 CALCRL-AS1, RNU6-989P, 9 more genes
    nsv6683468copy number variation1nstd229human GRCh38 chr2: 186,730,793-186,733,472 , GRCh37.p13 chr2: 187,595,520-187,598,199 FAM171B
    nsv6681351copy number variation1nstd229human GRCh38 chr2: 183,760,744-188,740,800 , GRCh37.p13 chr2: 184,625,471-189,605,527 MIR548AE1, LOC105373781, 42 more genes
    nsv6678508copy number variation1nstd229human GRCh38 chr2: 186,751,653-186,785,391 , GRCh37.p13 chr2: 187,616,380-187,650,118 FAM171B
    nsv6636571copy number variation1nstd102humanPathogenic GRCh37 chr2: 187,152,754-199,960,525 , GRCh38.p12 chr2: 186,288,027-199,095,802 GAPDHP59, OSGEPL1-AS1, 135 more genes
    nsv6636201copy number variation1nstd102humanUncertain significance GRCh37 chr2: 187,466,416-188,487,473 , GRCh38.p12 chr2: 186,601,689-187,622,746 CALCRL, ITGAV, 8 more genes
    nsv6548079inversion1nstd223human GRCh38 chr2: 178,157,654-187,669,944 , GRCh37.p13 chr2: 179,022,381-188,534,671 RNU7-104P, RN7SKP42, 90 more genes
    nsv6354184copy number variation1nstd223human GRCh38 chr2: 186,717,145-186,717,705 , GRCh37.p13 chr2: 187,581,872-187,582,432 FAM171B
    nsv6352555copy number variation1nstd223human GRCh38 chr2: 186,711,671-186,712,052 , GRCh37.p13 chr2: 187,576,398-187,576,779 FAM171B
    nsv6345617copy number variation1nstd223human GRCh38 chr2: 186,764,501-186,765,400 , GRCh37.p13 chr2: 187,629,228-187,630,127 FAM171B
    nsv6340879copy number variation1nstd223human GRCh38 chr2: 186,703,801-186,704,600 , GRCh37.p13 chr2: 187,568,528-187,569,327 FAM171B
    nsv6337770copy number variation1nstd223human GRCh38 chr2: 186,699,803-186,700,285 , GRCh37.p13 chr2: 187,564,530-187,565,012 FAM171B
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