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Items: 1 to 20 of 1415

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6114444copy number variation1nstd186human GRCh37 chr5: 69,181,634-69,210,202 , GRCh38.p12 chr5: 69,885,807-69,914,375 , GRCh38.p12 chr5|NT_187651.1: 124,694-139,383 GUSBP15, LOC728506, 2 more genes
    nsv6112727copy number variation1nstd102humannot provided GRCh37 chr5: 70,220,768-70,247,953 , GRCh38.p12 chr5: 70,924,941-70,952,126 , GRCh38.p12 chr5|NT_187651.1: 473,376-500,558 , GRCh38.p12 chr5|NW_003315917.2: 458,665-485,846 SMN1, GUSBP15
    nsv5673763copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 70,895,466-70,895,607 , GRCh38.p12 chr5: 71,599,639-71,599,780 , GRCh38.p12 chr5|NT_187651.1: 1,129,614-1,129,755 , GRCh38.p12 chr5|NW_003315917.2: 1,598,124-1,598,265 MCCC2
    nsv5673762copy number variation1nstd102humanPathogenic GRCh37 chr5: 70,892,097-70,892,201 , GRCh38.p12 chr5: 71,596,270-71,596,374 , GRCh38.p12 chr5|NW_003315917.2: 1,594,755-1,594,859 , GRCh38.p12 chr5|NT_187651.1: 1,126,245-1,126,349 MCCC2
    nsv5337856translocation1nstd200human GRCh37 chr5: 70,853,548-70,853,548 , GRCh37 chr5: 70,853,481-70,853,481 , GRCh38.p12 chr5|NT_187651.1: 1,087,629-1,087,629 , GRCh38.p12 chr5|NT_187651.1: 1,087,696-1,087,696 , GRCh38.p12 chr5|NW_003315917.2: 1,556,139-1,556,139 , GRCh38.p12 chr5|NW_003315917.2: 1,556,206-1,556,206 , GRCh38.p12 chr5: 71,557,654-71,557,654 , GRCh38.p12 chr5: 71,557,721-71,557,721 BDP1
    nsv4808689copy number variation1nstd200human GRCh37 chr5: 70,846,171-70,847,144 , GRCh38.p12 chr5: 71,550,344-71,551,317 , GRCh38.p12 chr5|NW_003315917.2: 1,548,829-1,549,802 , GRCh38.p12 chr5|NT_187651.1: 1,080,319-1,081,292 BDP1
    nsv4808688copy number variation1nstd200human GRCh37 chr5: 70,842,196-70,842,271 , GRCh38.p12 chr5|NT_187651.1: 1,076,344-1,076,419 , GRCh38.p12 chr5|NW_003315917.2: 1,544,854-1,544,929 , GRCh38.p12 chr5: 71,546,369-71,546,444 BDP1
    nsv4808687copy number variation1nstd200human GRCh37 chr5: 70,787,306-70,787,379 , GRCh38.p12 chr5|NW_003315917.2: 1,489,964-1,490,037 , GRCh38.p12 chr5: 71,491,479-71,491,552 , GRCh38.p12 chr5|NT_187651.1: 1,021,451-1,021,524 BDP1
    nsv4808686copy number variation1nstd200human GRCh37 chr5: 70,772,748-70,775,543 , GRCh38.p12 chr5|NT_187651.1: 1,006,898-1,009,704 , GRCh38.p12 chr5: 71,476,921-71,479,716 , GRCh38.p12 chr5|NW_003315917.2: 1,475,406-1,478,201 BDP1
    nsv4808685copy number variation1nstd200human GRCh37 chr5: 70,678,487-70,678,911 , GRCh38.p12 chr5|NT_187651.1: 912,637-913,061 , GRCh38.p12 chr5|NW_003315917.2: 1,381,162-1,381,586 , GRCh38.p12 chr5: 71,382,660-71,383,084 PMCHL2, LINC02197
    nsv4808684copy number variation1nstd200human GRCh37 chr5: 70,307,110-70,307,193 , GRCh38.p12 chr5|NW_003315917.2: 399,478-399,561 , GRCh38.p12 chr5|NT_187651.1: 559,665-559,748 , GRCh38.p12 chr5: 71,011,283-71,011,366 NAIP, NAIPP1
    nsv4805584copy number variation1nstd200human GRCh37 chr5: 70,783,319-70,784,545 , GRCh38.p12 chr5: 71,487,492-71,488,718 , GRCh38.p12 chr5|NT_187651.1: 1,017,462-1,018,688 , GRCh38.p12 chr5|NW_003315917.2: 1,485,977-1,487,203 BDP1
    nsv4805583copy number variation1nstd200human GRCh37 chr5: 70,689,723-70,698,171 , GRCh38.p12 chr5: 71,393,896-71,402,344 , GRCh38.p12 chr5|NT_187651.1: 923,875-932,327 , GRCh38.p12 chr5|NW_003315917.2: 1,392,400-1,400,846 LINC02197
    nsv4768367copy number variation2nstd102humanPathogenic GRCh37 chr5: 70,247,768-70,248,841 , GRCh38.p12 chr5|NW_003315917.2: 457,777-458,850 , GRCh38.p12 chr5: 70,951,941-70,953,014 , GRCh38.p12 chr5|NT_187651.1: 500,373-501,446 GUSBP15, SMN1
    nsv4746554copy number variation1nstd199human GRCh37 chr5: 70,853,473-70,853,539 , GRCh38.p12 chr5: 71,557,646-71,557,712 , GRCh38.p12 chr5|NW_003315917.2: 1,556,131-1,556,197 , GRCh38.p12 chr5|NT_187651.1: 1,087,621-1,087,687 BDP1
    nsv4745244copy number variation1nstd199human GRCh37 chr5: 70,816,808-70,816,937 , GRCh38.p12 chr5: 71,520,981-71,521,110 , GRCh38.p12 chr5|NT_187651.1: 1,050,956-1,051,085 , GRCh38.p12 chr5|NW_003315917.2: 1,519,466-1,519,595 BDP1
    nsv4740411copy number variation1nstd199human GRCh37 chr5: 70,821,358-70,821,414 , GRCh38.p12 chr5|NT_187651.1: 1,055,506-1,055,562 , GRCh38.p12 chr5: 71,525,531-71,525,587 , GRCh38.p12 chr5|NW_003315917.2: 1,524,016-1,524,072 BDP1
    nsv4728002copy number variation1nstd197human GRCh37 chr5: 70,307,103-70,308,742 , GRCh38.p12 chr5: 71,011,276-71,012,915 , GRCh38.p12 chr5|NT_187651.1: 559,658-561,297 , GRCh38.p12 chr5|NW_003315917.2: 397,929-399,568 NAIP, NAIPP1
    nsv4725446insertion1nstd186human GRCh37 chr5: 70,816,501-70,816,501 , GRCh38.p12 chr5|NW_003315917.2: 1,519,159-1,519,159 , GRCh38.p12 chr5: 71,520,674-71,520,674 , GRCh38.p12 chr5|NT_187651.1: 1,050,649-1,050,649 BDP1
    nsv4715604copy number variation1nstd195human GRCh37 chr5: 69,297,951-69,299,151 , GRCh38.p12 chr5: 70,002,124-70,003,324 , GRCh38.p12 chr5|NT_187651.1: 227,120-228,320 GUSBP15
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