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Items: 1 to 20 of 318

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148216copy number variation1nstd102humanPathogenic GRCh38 chr2: 130,099,219-130,374,931 , GRCh37.p13 chr2: 130,856,792-131,132,504 CCDC115, MTATP6P7, 27 more genes
    nsv7057345inversion1nstd229human GRCh38 chr2: 129,898,796-130,726,919 , GRCh37.p13 chr2: 130,656,369-131,484,492 FAR2P2, POTEF, 53 more genes
    nsv7054595inversion1nstd229human GRCh38 chr2: 129,115,794-130,999,381 , GRCh37.p13 chr2: 129,873,367-131,756,954 LOC646674, CYP4F27P, 65 more genes
    nsv7053338inversion1nstd229human GRCh38 chr2: 129,419,773-131,102,874 , GRCh37.p13 chr2: 130,177,346-131,860,447 RPL19P4, PRSS40A, 65 more genes
    nsv7049181inversion1nstd229human GRCh38 chr2: 130,136,548-131,548,052 , GRCh37.p13 chr2: 130,894,121-132,305,625 NMTRQ-TTG7-1, LOC105373618, 84 more genes
    nsv7048610inversion1nstd229human GRCh38 chr2: 129,502,833-131,219,594 , GRCh37.p13 chr2: 130,260,406-131,977,167 LOC105373614, TRE-TTC1-1, 67 more genes
    nsv7043447inversion1nstd229human GRCh38 chr2: 130,139,181-130,139,915 , GRCh37.p13 chr2: 130,896,754-130,897,488 MED15P9, CCDC74B
    nsv7042434inversion1nstd229human GRCh38 chr2: 130,139,164-130,139,886 , GRCh37.p13 chr2: 130,896,737-130,897,459 CCDC74B, MED15P9
    nsv7040855inversion1nstd229human GRCh38 chr2: 130,061,198-131,276,586 , GRCh37.p13 chr2: 130,818,771-132,034,159 NF1P8, MTND4P27, 53 more genes
    nsv7039843inversion1nstd229human GRCh38 chr2: 130,135,157-131,537,855 , GRCh37.p13 chr2: 130,892,730-132,295,428 CYP4F30P, RNU6-473P, 84 more genes
    nsv6685046copy number variation1nstd229human GRCh38 chr2: 129,034,609-130,295,093 , GRCh37.p13 chr2: 129,792,182-131,052,666 NMTRQ-TTG7-1, MTATP6P7, 41 more genes
    nsv6683648copy number variation1nstd229human GRCh38 chr2: 129,734,146-130,184,868 , GRCh37.p13 chr2: 130,491,719-130,942,441 SMPD4, LOC105373616, 19 more genes
    nsv6681340copy number variation1nstd229human GRCh38 chr2: 130,116,319-130,195,781 , GRCh37.p13 chr2: 130,873,892-130,953,354 CCDC74B, SMPD4, 4 more genes
    nsv6679692copy number variation1nstd229human GRCh38 chr2: 128,625,642-138,426,614 , GRCh37.p13 chr2: 129,383,216-139,184,184 MTND4P27, LOC646674, 194 more genes
    nsv6627323copy number variation1nstd224human GRCh37 chr2: 130,832,623-131,486,951 , GRCh38.p12 chr2: 130,075,050-130,729,378 SMPD4, PRSS40A, 43 more genes
    nsv6627322copy number variation4nstd224human GRCh37 chr2: 130,832,623-131,158,755 , GRCh38.p12 chr2: 130,075,050-130,401,182 MED15P9, POTEF, 28 more genes
    nsv6627321copy number variation2nstd224human GRCh37 chr2: 130,795,379-131,158,755 , GRCh38.p12 chr2: 130,037,806-130,401,182 SMPD4, IMP4, 31 more genes
    nsv6627246copy number variation2nstd224human GRCh37 chr2: 130,843,553-131,158,755 , GRCh38.p12 chr2: 130,085,980-130,401,182 CCDC115, MED15P9, 28 more genes
    nsv6553476inversion1nstd223human GRCh38 chr2: 130,061,029-131,276,582 , GRCh37.p13 chr2: 130,818,602-132,034,155 MTND4P27, MTND6P8, 53 more genes
    nsv6552437inversion1nstd223human GRCh38 chr2: 130,128,480-131,544,454 , GRCh37.p13 chr2: 130,886,053-132,302,027 LINC01120, TEKT4P3, 85 more genes
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