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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7046952inversion1nstd229human GRCh38 chr1: 227,416,479-227,774,357 , GRCh37.p13 chr1: 227,604,180-227,962,058 RPS18P3, BTF3P9, 12 more genes
    nsv6673885copy number variation1nstd229human GRCh38 chr1: 227,302,252-227,466,289 , GRCh37.p13 chr1: 227,489,953-227,653,990 BTF3P9, LINC01641, 3 more genes
    nsv6666203copy number variation1nstd229human GRCh38 chr1: 227,373,330-227,491,517 , GRCh37.p13 chr1: 227,561,031-227,679,218 NUCKS1P1, TUBB8P10, 3 more genes
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6334612copy number variation1nstd223human GRCh38 chr1: 227,418,649-227,462,507 , GRCh37.p13 chr1: 227,606,350-227,650,208 NUCKS1P1, BTF3P9, 1 more genes
    nsv6330225copy number variation1nstd223human GRCh38 chr1: 227,302,252-227,466,289 , GRCh37.p13 chr1: 227,489,953-227,653,990 NUCKS1P1, CDC42BPA, 3 more genes
    nsv6313700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 226,131,690-231,908,227 , GRCh38.p12 chr1: 225,943,990-231,772,481 ACTA1, PARP1, 167 more genes
    nsv6133981copy number variation1nstd213human GRCh37 chr1: 223,800,000-235,190,001 , GRCh38.p12 chr1: 223,612,298-235,054,254 AGT, H3-3A, 273 more genes
    nsv6133862copy number variation1nstd213human GRCh37 chr1: 226,360,000-227,650,001 , GRCh38.p12 chr1: 226,172,299-227,462,300 CDKN2AIPNLP1, LOC100418874, 27 more genes
    nsv6133761copy number variation1nstd213human GRCh37 chr1: 227,390,000-227,880,001 , GRCh38.p12 chr1: 227,202,299-227,692,300 TUBB8P9, ZNF678, 14 more genes
    nsv6133760copy number variation1nstd213human GRCh37 chr1: 223,800,000-227,830,001 , GRCh38.p12 chr1: 223,612,298-227,642,300 PARP1, LBR, 92 more genes
    nsv6133646copy number variation1nstd213human GRCh37 chr1: 226,280,000-228,400,001 , GRCh38.p12 chr1: 226,092,299-228,212,300 MRPL55, LIN9, 62 more genes
    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
    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
    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
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