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Items: 1 to 20 of 143

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147002insertion1nstd232human GRCh37.p13 chr2: 232,322,508-232,322,508 , GRCh38.p12 chr2: 231,457,797-231,457,797 NCL
    nsv7146081insertion1nstd232human GRCh37.p13 chr2: 232,326,730-232,326,730 , GRCh38.p12 chr2: 231,462,019-231,462,019 NCL
    nsv7145360insertion1nstd232human GRCh37.p13 chr2: 232,325,005-232,325,005 , GRCh38.p12 chr2: 231,460,294-231,460,294 NCL, SNORD82
    nsv7143215insertion1nstd232human GRCh37.p13 chr2: 232,323,838-232,323,838 , GRCh38.p12 chr2: 231,459,127-231,459,127 NCL, SNORD82
    nsv7142294insertion1nstd232human GRCh37.p13 chr2: 232,322,511-232,322,511 , GRCh38.p12 chr2: 231,457,800-231,457,800 NCL
    nsv7140012insertion1nstd232human GRCh37.p13 chr2: 232,325,576-232,325,576 , GRCh38.p12 chr2: 231,460,865-231,460,865 NCL, SNORD82
    nsv7139542insertion1nstd232human GRCh37.p13 chr2: 232,326,728-232,326,728 , GRCh38.p12 chr2: 231,462,017-231,462,017 NCL
    nsv7054895inversion1nstd229human GRCh38 chr2: 229,787,965-232,576,060 , GRCh37.p13 chr2: 230,652,681-233,440,770 GPR55, RN7SL834P, 80 more genes
    nsv7053432inversion1nstd229human GRCh38 chr2: 231,446,056-231,577,721 , GRCh37.p13 chr2: 232,310,767-232,442,432 SNORD82, RPL21P35, 8 more genes
    nsv7045289inversion1nstd229human GRCh38 chr2: 231,331,222-231,542,017 , GRCh37.p13 chr2: 232,195,934-232,406,728 SNORD20, NCL, 12 more genes
    nsv7044524inversion1nstd229human GRCh38 chr2: 231,260,277-231,483,600 , GRCh37.p13 chr2: 232,124,990-232,348,311 SNORA75, SNORD20, 8 more genes
    nsv6697310copy number variation1nstd229human GRCh38 chr2: 231,016,947-231,455,744 , GRCh37.p13 chr2: 231,881,662-232,320,455 B3GNT7, RPS28P4, 13 more genes
    nsv6694880copy number variation1nstd229human GRCh38 chr2: 231,454,103-231,454,261 , GRCh37.p13 chr2: 232,318,814-232,318,972 NCL, SNORA75
    nsv6693560copy number variation1nstd229human GRCh38 chr2: 231,452,485-231,452,621 , GRCh37.p13 chr2: 232,317,196-232,317,332 NCL
    nsv6678111copy number variation1nstd229human GRCh38 chr2: 231,445,544-231,453,275 , GRCh37.p13 chr2: 232,310,255-232,317,986 NCL
    nsv6344959copy number variation1nstd223human GRCh38 chr2: 231,451,193-231,452,516 , GRCh37.p13 chr2: 232,315,904-232,317,227 NCL
    nsv6341267copy number variation1nstd223human GRCh38 chr2: 231,420,917-231,454,846 , GRCh37.p13 chr2: 232,285,628-232,319,557 ZBTB8OSP2, HIGD2AP1, 3 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313683copy number variation1nstd102humanPathogenic GRCh37 chr2: 228,807,574-235,475,892 , GRCh38.p12 chr2: 227,942,858-234,567,248 RNU7-9P, SCARNA5, 143 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 LOC105373947, RN7SL764P, 357 more genes
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