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Items: 1 to 20 of 223

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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
    nsv7145336insertion1nstd232human GRCh37.p13 chr2: 191,554,738-191,554,738 , GRCh38.p12 chr2: 190,690,012-190,690,012 NAB1
    nsv7096119copy number variation2nstd102humanUncertain significance GRCh37 chr2: 189,839,216-192,012,929 , GRCh38.p12 chr2: 188,974,490-191,148,203 NAB1, ANKAR, 38 more genes
    nsv7054842inversion1nstd229human GRCh38 chr2: 190,054,200-190,773,498 , GRCh37.p13 chr2: 190,918,926-191,638,224 NAB1, NEMP2-DT, 7 more genes
    nsv7043535inversion1nstd229human GRCh38 chr2: 190,658,448-190,658,520 , GRCh37.p13 chr2: 191,523,174-191,523,246 NAB1
    nsv6697870copy number variation1nstd229human GRCh38 chr2: 190,687,801-190,705,100 , GRCh37.p13 chr2: 191,552,527-191,569,826 NAB1
    nsv6692142copy number variation1nstd229human GRCh38 chr2: 190,679,082-190,683,482 , GRCh37.p13 chr2: 191,543,808-191,548,208 NAB1
    nsv6690932copy number variation1nstd229human GRCh38 chr2: 190,650,957-190,791,491 , GRCh37.p13 chr2: 191,515,683-191,656,217 NAB1
    nsv6689276copy number variation1nstd229human GRCh38 chr2: 190,688,268-190,691,763 , GRCh37.p13 chr2: 191,552,994-191,556,489 NAB1
    nsv6685267copy number variation1nstd229human GRCh38 chr2: 190,675,764-190,679,789 , GRCh37.p13 chr2: 191,540,490-191,544,515 NAB1
    nsv6681089copy number variation1nstd229human GRCh38 chr2: 190,655,201-190,688,900 , GRCh37.p13 chr2: 191,519,927-191,553,626 NAB1
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    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
    nsv6354288copy number variation1nstd223human GRCh38 chr2: 190,643,601-190,651,700 , GRCh37.p13 chr2: 191,508,327-191,516,426 NAB1
    nsv6343763copy number variation1nstd223human GRCh38 chr2: 190,649,201-190,653,600 , GRCh37.p13 chr2: 191,513,927-191,518,326 NAB1
    nsv6339724copy number variation1nstd223human GRCh38 chr2: 190,667,501-190,668,500 , GRCh37.p13 chr2: 191,532,227-191,533,226 NAB1
    nsv6339075copy number variation1nstd223human GRCh38 chr2: 190,621,601-190,667,200 , GRCh37.p13 chr2: 191,486,327-191,531,926 NAB1
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6134336copy number variation1nstd213human GRCh37 chr2: 191,530,000-191,660,001 , GRCh38.p12 chr2: 190,665,274-190,795,275 NAB1
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