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Items: 1 to 20 of 265

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5884342copy number variation1nstd209human GRCh38 chr1: 221,964,560-227,275,238 , GRCh37.p13 chr1: 222,137,902-227,462,939 , YBX1P9, 111 more genes
    nsv5829223copy number variation1nstd209human GRCh38 chr1: 223,832,455-223,834,054 , GRCh37.p13 chr1: 224,020,157-224,021,756 TP53BP2
    nsv5686862mobile element insertion2nstd211human GRCh38 chr1: 223,800,197-223,800,197 , GRCh37.p13 chr1: 223,987,899-223,987,899 TP53BP2
    nsv5621740insertion1nstd207human GRCh38 chr1: 223,817,240-223,817,240 , GRCh37.p13 chr1: 224,004,942-224,004,942 TP53BP2
    nsv5619234insertion1nstd207human GRCh38 chr1: 223,800,183-223,800,183 , GRCh37.p13 chr1: 223,987,885-223,987,885 TP53BP2
    nsv5446856copy number variation1nstd206human GRCh38 chr1: 223,827,223-223,828,878 , GRCh37.p13 chr1: 224,014,925-224,016,580 TP53BP2
    nsv5403962mobile element insertion1nstd206human GRCh38 chr1: 223,800,197-223,800,248 , GRCh37.p13 chr1: 223,987,899-223,987,950 TP53BP2
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5373934translocation1nstd200human GRCh38 chr1: 223,843,383-223,843,383 , GRCh38 chr1: 223,861,228-223,861,228 , GRCh37.p13 chr1: 224,031,085-224,031,085 , GRCh37.p13 chr1: 224,048,930-224,048,930 ACTBP11, TP53BP2
    nsv5200338copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,552,998-224,761,890 , GRCh38.p12 chr1: 223,379,656-224,574,188 LOC105373025, CAPN2, 32 more genes
    nsv5066889mobile element insertion1nstd203human GRCh38 chr1: 223,800,183-223,800,197 , GRCh37.p13 chr1: 223,987,885-223,987,899 TP53BP2
    nsv5063673mobile element insertion1nstd203human GRCh38 chr1: 223,800,188-223,800,197 , GRCh37.p13 chr1: 223,987,890-223,987,899 TP53BP2
    nsv4898938copy number variation1nstd200human GRCh38 chr1: 223,836,424-223,842,284 , GRCh37.p13 chr1: 224,024,126-224,029,986 TP53BP2
    nsv4898937copy number variation1nstd200human GRCh38 chr1: 223,783,193-223,784,059 , GRCh37.p13 chr1: 223,970,895-223,971,761 TP53BP2
    nsv4774555copy number variation1nstd200human GRCh37 chr1: 224,024,126-224,029,986 , GRCh38.p12 chr1: 223,836,424-223,842,284 TP53BP2
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728176copy number variation1nstd102humanPathogenic GRCh37 chr1: 222,605,125-224,696,628 , GRCh38.p12 chr1: 222,431,783-224,508,926 SEPTIN7P13, LOC101927164, 52 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
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