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Items: 1 to 20 of 159

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5693094mobile element insertion1nstd211human GRCh38 chr2: 222,328,615-222,328,615 , GRCh37.p13 chr2: 223,193,334-223,193,334 CT75
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5444719copy number variation1nstd206human GRCh38 chr2: 222,349,971-222,351,831 , GRCh37.p13 chr2: 223,214,690-223,216,550 CT75
    nsv5405602mobile element insertion1nstd206human GRCh38 chr2: 222,328,615-222,328,666 , GRCh37.p13 chr2: 223,193,334-223,193,385 CT75
    nsv5075418mobile element insertion1nstd203human GRCh38 chr2: 222,328,369-222,328,385 , GRCh37.p13 chr2: 223,193,088-223,193,104 CT75
    nsv5038383inversion1nstd200human GRCh38 chr2: 222,072,838-224,063,267 , GRCh37.p13 chr2: 222,937,557-224,927,984 GAPDHP49, ACSL3-AS1, 31 more genes
    nsv4917045copy number variation1nstd200human GRCh38 chr2: 222,316,950-222,320,352 , GRCh37.p13 chr2: 223,181,669-223,185,071 CT75
    nsv4885260inversion1nstd200human GRCh37 chr2: 222,937,557-224,927,984 , GRCh38.p12 chr2: 222,072,838-224,063,267 CCDC140, WDFY1, 31 more genes
    nsv4806025copy number variation1nstd200human GRCh37 chr2: 223,222,441-223,222,759 , GRCh38.p12 chr2: 222,357,722-222,358,040 CT75
    nsv4806024copy number variation1nstd200human GRCh37 chr2: 223,181,669-223,185,071 , GRCh38.p12 chr2: 222,316,950-222,320,352 CT75
    nsv4741077copy number variation1nstd199human GRCh37 chr2: 223,197,496-223,197,560 , GRCh38.p12 chr2: 222,332,777-222,332,841 CT75
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728510copy number variation1nstd102humanPathogenic GRCh37 chr2: 222,621,434-224,754,689 , GRCh38.p12 chr2: 221,756,714-223,889,972 LOC105373905, LOC105373902, 32 more genes
    nsv4674225copy number variation1nstd102humanUncertain significance GRCh37 chr2: 223,065,545-223,228,242 , GRCh38.p12 chr2: 222,200,826-222,363,523 CT75, PAX3, 2 more genes
    nsv4567689mobile element insertion1nstd166human GRCh37.p13 chr2: 223,199,826-223,199,826 , GRCh38.p12 chr2: 222,335,107-222,335,107 CT75
    nsv4466244mobile element insertion1nstd166human GRCh37.p13 chr2: 223,215,294-223,215,294 , GRCh38.p12 chr2: 222,350,575-222,350,575 CT75
    nsv4466243mobile element insertion1nstd166human GRCh37.p13 chr2: 223,202,810-223,202,810 , GRCh38.p12 chr2: 222,338,091-222,338,091 CT75
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 more genes
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