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Items: 1 to 20 of 159

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099261copy number variation1nstd231human GRCh38.p12 chr1: 211,283,087-211,705,792 , GRCh37 chr1: 211,456,429-211,879,134 NEK2, TRAF5, 13 more genes
    nsv7057752inversion1nstd229human GRCh38 chr1: 211,663,413-212,027,993 , GRCh37.p13 chr1: 211,836,755-212,201,335 INTS7, NEK2, 5 more genes
    nsv7042463inversion1nstd229human GRCh38 chr1: 211,660,247-212,017,348 , GRCh37.p13 chr1: 211,833,589-212,190,690 NEK2, LPGAT1-AS1, 6 more genes
    nsv7040987inversion1nstd229human GRCh38 chr1: 210,564,176-212,658,793 , GRCh37.p13 chr1: 210,737,520-212,832,135 LPGAT1, RFKP5, 44 more genes
    nsv7039050inversion1nstd229human GRCh38 chr1: 211,652,773-211,658,361 , GRCh37.p13 chr1: 211,826,115-211,831,703 NEK2, FDPSP8, 1 more genes
    nsv6677377copy number variation1nstd229human GRCh38 chr1: 211,546,283-211,720,978 , GRCh37.p13 chr1: 211,719,625-211,894,320 NTRAS, LOC105372903, 6 more genes
    nsv6669987copy number variation1nstd229human GRCh38 chr1: 211,602,028-211,793,536 , GRCh37.p13 chr1: 211,775,370-211,966,878 NEK2-DT, FDPSP8, 6 more genes
    nsv6666648copy number variation1nstd229human GRCh38 chr1: 211,656,611-211,659,928 , GRCh37.p13 chr1: 211,829,953-211,833,270 FDPSP8, NEK2
    nsv6663575copy number variation1nstd229human GRCh38 chr1: 211,665,693-211,673,392 , GRCh37.p13 chr1: 211,839,035-211,846,734 NEK2
    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
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 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
    nsv6544141inversion1nstd223human GRCh38 chr1: 211,673,128-211,673,815 , GRCh37.p13 chr1: 211,846,470-211,847,157 NEK2-DT, NEK2
    nsv6325553copy number variation1nstd223human GRCh38 chr1: 209,453,567-212,914,449 , GRCh37.p13 chr1: 209,626,912-213,087,791 ST13P19, RPS5P4, 74 more genes
    nsv6324245copy number variation1nstd223human GRCh38 chr1: 211,656,611-211,659,928 , GRCh37.p13 chr1: 211,829,953-211,833,270 FDPSP8, NEK2
    nsv6316149copy number variation1nstd223human GRCh38 chr1: 211,671,301-211,673,100 , GRCh37.p13 chr1: 211,844,643-211,846,442 NEK2
    nsv6310746copy number variation1nstd102humanUncertain significance GRCh37 chr1: 211,836,768-211,848,821 , GRCh38.p12 chr1: 211,663,426-211,675,479 NEK2-DT, NEK2
    nsv6133972copy number variation1nstd213human GRCh37 chr1: 211,730,000-212,030,001 , GRCh38.p12 chr1: 211,556,658-211,856,659 RN7SL344P, NEK2, 8 more genes
    nsv6133753copy number variation1nstd213human GRCh37 chr1: 210,410,000-214,880,001 , GRCh38.p12 chr1: 210,236,655-214,706,658 NEK2, PPP2R5A, 73 more genes
    nsv6133630copy number variation2nstd213human GRCh37 chr1: 206,490,000-223,720,001 , GRCh38.p12 chr1: 206,316,655-223,546,636 ATP5MC2P1, CENPF, 269 more genes
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