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Items: 1 to 20 of 142

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099198copy number variation1nstd231human GRCh38.p12 chr1: 44,129,375-46,768,878 , GRCh37 chr1: 44,595,047-47,234,550 PLK3, FAAH, 93 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 AKR1A1, OSTCP5, 87 more genes
    nsv7055071inversion1nstd229human GRCh38 chr1: 43,970,005-47,371,780 , GRCh37.p13 chr1: 44,435,677-47,837,452 SNORD38A, PPIAP36, 121 more genes
    nsv6650263copy number variation1nstd229human GRCh38 chr1: 45,001,874-45,009,003 , GRCh37.p13 chr1: 45,467,546-45,474,675 HECTD3
    nsv6650257copy number variation1nstd229human GRCh38 chr1: 44,858,647-45,001,456 , GRCh37.p13 chr1: 45,324,319-45,467,128 EIF2B3, PPIAP35, 4 more genes
    nsv6649971copy number variation1nstd229human GRCh38 chr1: 44,983,619-45,003,657 , GRCh37.p13 chr1: 45,449,291-45,469,329 PPIAP35, HECTD3, 2 more genes
    nsv6326739copy number variation1nstd223human GRCh38 chr1: 44,858,647-45,001,456 , GRCh37.p13 chr1: 45,324,319-45,467,128 CCNB1IP1P1, HECTD3, 4 more genes
    nsv6319779copy number variation1nstd223human GRCh38 chr1: 44,996,835-45,001,588 , GRCh37.p13 chr1: 45,462,507-45,467,260 HECTD3
    nsv6314936copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489 ZSWIM5, OSTCP5, 79 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133871copy number variation1nstd213human GRCh37 chr1: 44,070,000-46,570,001 , GRCh38.p12 chr1: 43,604,329-46,104,329 ATP6V0B, PLK3, 87 more genes
    nsv5180485mobile element insertion1nstd203human GRCh38 chr1: 45,002,595-45,002,595 , GRCh37.p13 chr1: 45,468,267-45,468,267 HECTD3
    nsv4906263copy number variation1nstd200human GRCh38 chr1: 45,005,280-45,005,437 , GRCh37.p13 chr1: 45,470,952-45,471,109 HECTD3
    nsv4906262copy number variation1nstd200human GRCh38 chr1: 44,996,835-45,001,589 , GRCh37.p13 chr1: 45,462,507-45,467,261 HECTD3
    nsv4773335copy number variation1nstd200human GRCh37 chr1: 45,470,952-45,471,109 , GRCh38.p12 chr1: 45,005,280-45,005,437 HECTD3
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4682227copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,288,077-45,805,936 , GRCh38.p12 chr1: 44,822,405-45,340,264 MUTYH, HECTD3, 14 more genes
    nsv4679182copy number variation1nstd189human GRCh37.p13 chr1: 44,966,524-45,765,102 , GRCh38.p12 chr1: 44,500,852-45,299,430 PLK3, RPS8, 32 more genes
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