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Items: 1 to 20 of 216

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148080copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,335,152-113,127,204 , GRCh38.p12 chr2: 110,577,575-112,369,627 MIR4771-2, BUB1, 33 more genes
    nsv7098850copy number variation1nstd102humanUncertain significance GRCh37 chr2: 111,368,292-113,191,030 , GRCh38.p12 chr2: 110,610,715-112,433,453 MERTK, MIR4435-2HG, 33 more genes
    nsv7052468inversion1nstd229human GRCh38 chr2: 109,726,921-110,637,321 , GRCh37.p13 chr2: 110,484,498-111,394,898 LOC105373553, NPHP1, 39 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
    nsv6636824copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,366,256-113,127,751 , GRCh38.p12 chr2: 110,608,679-112,370,174 PAFAH1B1P2, BUB1, 33 more genes
    nsv6636588copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 111,365,996-113,111,856 , GRCh38.p12 chr2: 110,608,419-112,354,279 BUB1, BCL2L11, 32 more genes
    nsv6636225copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,369,264-113,142,794 , GRCh38.p12 chr2: 110,611,687-112,385,217 RPL34P8, SNORD132, 32 more genes
    nsv6315442copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,365,995-113,199,850 , GRCh38.p12 chr2: 110,608,418-112,442,273 MIR4435-2HG, LOC105373553, 33 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314776copy number variation1nstd220human GRCh37 chr2: 111,195,659-113,121,587 , GRCh38.p12 chr2: 110,438,082-112,364,010 BUB1, BCL2L11, 35 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
    nsv6140153copy number variation1nstd206human GRCh38 chr2: 110,599,618-110,611,618 , GRCh37.p13 chr2: 111,357,195-111,369,195 RGPD6, LOC105373553
    nsv6139661copy number variation1nstd206human GRCh38 chr2: 110,603,618-110,609,618 , GRCh37.p13 chr2: 111,361,195-111,367,195 RGPD6, LOC105373553
    nsv6139497copy number variation1nstd206human GRCh38 chr2: 110,591,359-110,612,809 , GRCh37.p13 chr2: 111,348,936-111,370,386 RGPD6, LOC105373553
    nsv5985366copy number variation1nstd212human GRCh38 chr2: 110,612,106-110,618,609 , GRCh37.p13 chr2: 111,369,683-111,376,186 LOC105373553
    nsv5985309copy number variation1nstd212human GRCh38 chr2: 108,715,210-112,293,808 , GRCh37.p13 chr2: 109,331,666-113,051,385 , NPHP1, 85 more genes
    nsv5576726copy number variation1nstd207human GRCh38 chr2: 110,612,103-110,612,487 , GRCh37.p13 chr2: 111,369,680-111,370,064 LOC105373553
    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
    nsv5448889copy number variation1nstd206human GRCh38 chr2: 110,603,618-110,611,618 , GRCh37.p13 chr2: 111,361,195-111,369,195 LOC105373553, RGPD6
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