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Items: 1 to 20 of 141

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099194copy number variation1nstd231human GRCh38.p12 chr1: 39,146,492-41,396,453 , GRCh37 chr1: 39,612,164-41,862,125 BMP8B, COL9A2, 65 more genes
    nsv7095614copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,766,130-40,771,829 , GRCh38.p12 chr1: 40,300,458-40,306,157 COL9A2
    nsv7054861inversion1nstd229human GRCh38 chr1: 40,189,430-40,388,332 , GRCh37.p13 chr1: 40,655,102-40,854,004 RLF, ZMPSTE24, 4 more genes
    nsv7046734inversion1nstd229human GRCh38 chr1: 40,185,604-40,351,874 , GRCh37.p13 chr1: 40,651,276-40,817,546 RLF, ZMPSTE24, 3 more genes
    nsv6649897copy number variation1nstd229human GRCh38 chr1: 40,282,326-40,393,224 , GRCh37.p13 chr1: 40,747,998-40,858,896 ZMPSTE24, COL9A2, 2 more genes
    nsv6649817copy number variation1nstd229human GRCh38 chr1: 40,309,239-40,309,277 , GRCh37.p13 chr1: 40,774,911-40,774,949 COL9A2
    nsv6649816copy number variation1nstd229human GRCh38 chr1: 40,307,750-40,310,798 , GRCh37.p13 chr1: 40,773,422-40,776,470 COL9A2
    nsv6636519copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,758,393-41,009,559 , GRCh38.p12 chr1: 40,292,721-40,543,887 COL9A2, SMAP2, 7 more genes
    nsv6330387copy number variation1nstd223human GRCh38 chr1: 40,317,559-40,321,769 , GRCh37.p13 chr1: 40,783,231-40,787,441 COL9A2
    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
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 BMP8B, COL9A2, 93 more genes
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5680914mobile element insertion1nstd211human GRCh38 chr1: 40,298,548-40,298,548 , GRCh37.p13 chr1: 40,764,220-40,764,220 COL9A2
    nsv5419166copy number variation1nstd206human GRCh38 chr1: 40,282,326-40,393,224 , GRCh37.p13 chr1: 40,747,998-40,858,896 , COL9A2, 3 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
    nsv4581211copy number variation1nstd183human GRCh37 chr1: 40,769,442-40,769,749 , GRCh38.p12 chr1: 40,303,770-40,304,077 COL9A2
    nsv4581210copy number variation2nstd183human GRCh37 chr1: 40,769,314-40,769,486 , GRCh38.p12 chr1: 40,303,642-40,303,814 COL9A2
    nsv4581107copy number variation2nstd183human GRCh37 chr1: 40,770,187-40,770,483 , GRCh38.p12 chr1: 40,304,515-40,304,811 COL9A2
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