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Items: 1 to 20 of 106

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099180copy number variation1nstd231human GRCh38.p12 chr1: 17,015,046-18,804,744 , GRCh37 chr1: 17,341,541-19,131,238 PAX7, SDHB, 19 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7051511inversion1nstd229human GRCh38 chr1: 18,284,649-18,755,342 , GRCh37.p13 chr1: 18,611,143-19,081,836 DYNLL1P3, PAX7, 2 more genes
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv6646322copy number variation1nstd229human GRCh38 chr1: 18,481,805-18,492,068 , GRCh37.p13 chr1: 18,808,299-18,818,562 KLHDC7A
    nsv6646312copy number variation1nstd229human GRCh38 chr1: 18,459,080-18,488,205 , GRCh37.p13 chr1: 18,785,574-18,814,699 KLHDC7A
    nsv6646174copy number variation1nstd229human GRCh38 chr1: 18,486,499-18,555,656 , GRCh37.p13 chr1: 18,812,993-18,882,150 DYNLL1P3, KLHDC7A
    nsv6646163copy number variation1nstd229human GRCh38 chr1: 18,448,924-18,911,123 , GRCh37.p13 chr1: 18,775,418-19,237,617 KLHDC7A, MIR1290, 6 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6327977copy number variation1nstd223human GRCh38 chr1: 18,479,814-18,749,966 , GRCh37.p13 chr1: 18,806,308-19,076,460 PAX7, DYNLL1P3, 1 more genes
    nsv6290472copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,773,001-20,221,073 , GRCh38.p12 chr1: 16,446,506-19,894,580 MIR1290, RNU6-1099P, 92 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv6133948copy number variation1nstd213human GRCh37 chr1: 17,280,000-26,950,001 , GRCh38.p12 chr1: 16,953,505-26,623,510 ALPL, C1QA, 250 more genes
    nsv6133748copy number variation1nstd213human GRCh37 chr1: 17,270,000-26,960,001 , GRCh38.p12 chr1: 16,943,505-26,633,510 ALPL, C1QA, 250 more genes
    nsv6133572copy number variation1nstd213human GRCh37 chr1: 17,270,000-26,950,001 , GRCh38.p12 chr1: 16,943,505-26,623,510 ALPL, C1QA, 250 more genes
    nsv5874151copy number variation1nstd209human GRCh38 chr1: 13,714,112-20,623,728 , GRCh37.p13 chr1: 14,040,607-20,950,221 , TRV-CAC11-1, 171 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
    nsv4728344copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,906-21,778,495 , GRCh38.p12 chr1: 16,958,411-21,452,002 NBL1, AKR7A2, 98 more genes
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