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Items: 1 to 20 of 282

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7052468inversion1nstd229human GRCh38 chr2: 109,726,921-110,637,321 , GRCh37.p13 chr2: 110,484,498-111,394,898 LOC105373553, NPHP1, 39 more genes
    nsv7038094inversion1nstd229human GRCh38 chr2: 106,480,616-110,213,336 , GRCh37.p13 chr2: 107,097,072-110,970,913 WASF1P1, LOC105373985, 72 more genes
    nsv6686545copy number variation1nstd229human GRCh38 chr2: 103,585,907-110,943,040 , GRCh37.p13 chr2: 104,202,365-111,700,617 PPP1R2P5, CAPZBP1, 142 more genes
    nsv6634903copy number variation1nstd227human GRCh37 chr2: 110,477,792-110,980,346 , GRCh38.p12 chr2: 109,720,215-110,222,769 NPHP1, MALL, 23 more genes
    nsv6634363copy number variation1nstd102humanUncertain significance GRCh37 chr2: 110,498,141-111,365,996 , GRCh38.p12 chr2: 109,740,564-110,608,419 NPHP1, MIR4436B1, 34 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6627494copy number variation2nstd224human GRCh37 chr2: 110,482,930-110,983,320 , GRCh38.p12 chr2: 109,725,353-110,225,743 LOC440895, MIR4267, 22 more genes
    nsv6627492copy number variation1nstd224human GRCh37 chr2: 109,962,283-110,983,320 , GRCh38.p12 chr2: 109,345,827-110,225,743 GPAA1P1, RPL22P11, 29 more genes
    nsv6627307copy number variation1nstd224human GRCh37 chr2: 110,465,111-110,983,320 , GRCh38.p12 chr2: 109,707,534-110,225,743 RGPD5, LIMS3, 23 more genes
    nsv6627233copy number variation1nstd224human GRCh37 chr2: 110,463,288-110,983,320 , GRCh38.p12 chr2: 109,705,711-110,225,743 NPHP1, MIR4267, 23 more genes
    nsv6315445copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 110,504,318-111,365,996 , GRCh38.p12 chr2: 109,746,741-110,608,419 LOC107985776, LOC105375809, 34 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6134417copy number variation1nstd213human GRCh37 chr2: 109,360,000-110,870,001 , GRCh38.p12 chr2: 108,743,544-110,112,424 RANBP2, MALL, 34 more genes
    nsv5985309copy number variation1nstd212human GRCh38 chr2: 108,715,210-112,293,808 , GRCh37.p13 chr2: 109,331,666-113,051,385 , NPHP1, 85 more genes
    nsv5678655mobile element insertion1nstd211human GRCh38 chr2: 110,046,296-110,046,296 , GRCh37.p13 chr2: 110,803,873-110,803,873 LOC105373986
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5444675copy number variation1nstd206human GRCh38 chr2: 110,047,618-110,274,704 , GRCh37.p13 chr2: 110,805,195-111,032,281 NPHP1, MALL, 6 more genes
    nsv5442426copy number variation1nstd206human GRCh38 chr2: 109,913,618-110,441,618 , GRCh37.p13 chr2: 110,671,195-111,199,195 LIMS3-LOC440895, LOC105373547, 28 more genes
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