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Items: 1 to 20 of 155

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148223copy number variation1nstd102humanPathogenic GRCh38 chr1: 61,077,177-62,865,614 , GRCh37.p13 chr1: 61,542,849-63,331,285 RPL13AP9, LOC105378768, 24 more genes
    nsv7137641insertion1nstd232human GRCh37.p13 chr1: 62,905,707-62,905,707 , GRCh38.p12 chr1: 62,440,036-62,440,036 USP1
    nsv7099297copy number variation1nstd231human GRCh38.p12 chr1: 58,444,770-67,143,664 , GRCh37 chr1: 58,910,442-67,609,347 AK4, CYP2J2, 125 more genes
    nsv7099208copy number variation1nstd231human GRCh38.p12 chr1: 59,526,542-66,009,490 , GRCh37 chr1: 59,992,214-66,475,173 AK4, CYP2J2, 96 more genes
    nsv7095627copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,548,464-67,861,772 , GRCh38.p12 chr1: 61,082,792-67,396,089 ALG6, MIR3116-2, 94 more genes
    nsv7039143inversion1nstd229human GRCh38 chr1: 61,633,784-64,711,589 , GRCh37.p13 chr1: 62,099,456-65,177,272 MGC34796, RN7SL130P, 53 more genes
    nsv6652789copy number variation1nstd229human GRCh38 chr1: 62,415,686-62,434,517 , GRCh37.p13 chr1: 62,881,357-62,900,188 USP1, LOC105378768
    nsv6542115inversion1nstd223human GRCh38 chr1: 61,925,268-71,371,290 , GRCh37.p13 chr1: 62,390,940-71,836,973 PATJ, GNG12-AS1, 142 more genes
    nsv6540851inversion1nstd223human GRCh38 chr1: 62,445,758-62,446,838 , GRCh37.p13 chr1: 62,911,429-62,912,509 USP1
    nsv6317224copy number variation1nstd223human GRCh38 chr1: 62,415,685-62,434,520 , GRCh37.p13 chr1: 62,881,356-62,900,191 LOC105378768, USP1
    nsv5867900copy number variation1nstd209human GRCh38 chr1: 62,440,106-62,440,376 , GRCh37.p13 chr1: 62,905,777-62,906,047 USP1
    nsv5077400mobile element insertion1nstd203human GRCh38 chr1: 62,451,408-62,451,418 , GRCh37.p13 chr1: 62,917,079-62,917,089 USP1
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    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
    nsv4582056copy number variation1nstd183human GRCh37 chr1: 62,902,025-62,902,674 , GRCh38.p12 chr1: 62,436,354-62,437,003 USP1
    nsv4462212mobile element insertion1nstd166human GRCh37.p13 chr1: 62,917,079-62,917,079 , GRCh38.p12 chr1: 62,451,408-62,451,408 USP1
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 more genes
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