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Items: 1 to 20 of 253

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148184copy number variation1nstd102humanPathogenic GRCh38 chr1: 243,221,458-248,919,110 , GRCh37.p13 chr1: 243,384,760-249,213,309 LOC105373271, LOC107985725, 153 more genes
    nsv7098854copy number variation1nstd102humanPathogenic GRCh37 chr1: 245,704,069-249,212,562 , GRCh38.p12 chr1: 245,540,767-248,918,363 OR2X1P, OR14A2, 118 more genes
    nsv7047322inversion1nstd229human GRCh38 chr1: 248,745,368-248,877,498 , GRCh37.p13 chr1: 249,098,884-249,171,697 TRE-CTC2-1, ZNF692, 7 more genes
    nsv6675042copy number variation1nstd229human GRCh38 chr1: 248,807,181-248,842,053 , GRCh37.p13 chr1: 249,101,380-249,136,252 ZNF672, MIR3124, 1 more genes
    nsv6673331copy number variation1nstd229human GRCh38 chr1: 248,794,344-248,887,696 , GRCh37.p13 chr1: 249,098,884-249,181,895 ZNF692, TRL-CAA4-1, 5 more genes
    nsv6671142copy number variation1nstd229human GRCh38 chr1: 248,825,627-248,827,866 , GRCh37.p13 chr1: 249,119,826-249,122,065 SH3BP5L, MIR3124
    nsv6670130copy number variation1nstd229human GRCh38 chr1: 248,810,688-248,810,821 , GRCh37.p13 chr1: 249,104,887-249,105,020 SH3BP5L
    nsv6670005copy number variation1nstd229human GRCh38 chr1: 248,781,906-248,853,074 , GRCh37.p13 chr1: 249,098,884-249,147,273 ZNF672, MIR3124, 2 more genes
    nsv6668862copy number variation1nstd229human GRCh38 chr1: 248,816,361-248,826,838 , GRCh37.p13 chr1: 249,110,560-249,121,037 SH3BP5L, MIR3124
    nsv6663752copy number variation1nstd229human GRCh38 chr1: 248,717,214-248,866,320 , GRCh37.p13 chr1: 248,880,515-249,098,883 AHCYP8, SH3BP5L, 6 more genes
    nsv6659621copy number variation1nstd229human GRCh38 chr1: 248,793,742-248,895,801 , GRCh37.p13 chr1: 249,098,884-249,190,000 PGBD2, MIR3124, 5 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
    nsv6636648copy number variation1nstd102humanPathogenic GRCh37 chr1: 239,910,960-249,224,684 , GRCh38.p12 chr1: 239,747,660-248,930,485 RFKP1, OR2T29, 206 more genes
    nsv6636282copy number variation1nstd102humanPathogenic GRCh37 chr1: 243,258,050-249,224,684 , GRCh38.p12 chr1: 243,094,748-248,930,485 AHCYP8, OR2M2, 154 more genes
    nsv6636061copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 242,045,197-249,212,668 , GRCh38.p12 chr1: 241,881,895-248,918,469 ADSS2, HNRNPU, 178 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
    nsv6634340copy number variation1nstd102humanPathogenic GRCh37 chr1: 246,850,401-249,205,263 , GRCh38.p12 chr1: 246,687,099-248,911,064 OR14A2, VN1R16P, 106 more genes
    nsv6634337copy number variation1nstd102humanPathogenic GRCh37 chr1: 233,012,994-249,206,918 , GRCh38.p12 chr1: 232,877,248-248,912,719 OR2M4, KIF28P, 316 more genes
    nsv6626001copy number variation1nstd224human GRCh37 chr1: 248,455,512-249,212,429 , GRCh38.p12 chr1: 248,292,210-248,918,230 OR2AS1P, OR14C36, 33 more genes
    nsv6331340copy number variation1nstd223human GRCh38 chr1: 248,807,181-248,842,053 , GRCh37.p13 chr1: 249,101,380-249,136,252 MIR3124, SH3BP5L, 1 more genes
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