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Items: 1 to 20 of 138

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098868copy number variation1nstd102humanPathogenic GRCh37 chr2: 121,981,917-122,363,471 , GRCh38.p12 chr2: 121,224,341-121,605,895 CLASP1, TFCP2L1, 3 more genes
    nsv3894253copy number variation1nstd102humanBenign GRCh37 chr20: 36,905,828-36,972,896 , GRCh38.p12 chr20: 38,277,426-38,344,493 LBP, LOC149684, 1 more genes
    nsv4450874copy number variation1nstd102humanUncertain significance GRCh37 chr3: 184,926,732-185,124,302 , GRCh38.p12 chr3: 185,208,944-185,406,514 MIR5588, MAP3K13, 2 more genes
    nsv3923475copy number variation1nstd102humanUncertain significance NCBI36 chr3: 33,389,650-33,549,646 , GRCh37.p13 chr3: 33,414,646-33,574,642 , GRCh38.p12 chr3: 33,373,154-33,533,150 RNA5SP128, CLASP2, 3 more genes
    nsv3884306copy number variation1nstd102humanUncertain significance GRCh37 chr3: 39,449,057-39,453,982 , GRCh38.p12 chr3: 39,407,566-39,412,491 SNORA62, SNORA6, 1 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv6311966copy number variation1nstd102humanPathogenic GRCh37 chr3: 16,710,965-41,275,270 , GRCh38.p12 chr3: 16,669,458-41,233,779 LOC102724104, CRIP1P2, 291 more genes
    nsv3876229copy number variation1nstd102humanPathogenic GRCh37 chr2: 120,571,363-141,627,287 , GRCh38.p12 chr2: 119,813,787-140,869,718 MIR9986, KLF2P4, 320 more genes
    nsv3894414copy number variation1nstd102humanPathogenic GRCh37 chr2: 118,843,900-135,722,308 , GRCh38 chr2: 118,086,324-134,964,738 , NCBI36 chr2: 118,560,370-135,438,778 RHOQP2, POTEE, 287 more genes
    nsv3873957copy number variation1nstd102humanPathogenic GRCh37 chr2: 109,798,247-125,658,380 , GRCh38.p12 chr2: 109,181,791-124,900,803 MTND1P28, RPSAP23, 230 more genes
    nsv3912723copy number variation1nstd102humanPathogenic NCBI36 chr20: 30,288,202-45,731,170 , GRCh37.p13 chr20: 30,824,541-46,297,763 , GRCh38.p12 chr20: 32,236,738-47,669,019 LBP, LOC107985448, 370 more genes
    nsv6313770copy number variation1nstd102humanPathogenic GRCh37 chr2: 113,188,197-128,144,700 , GRCh38.p12 chr2: 112,430,620-127,387,124 LOC105373575, RPS20P11, 174 more genes
    nsv3892279copy number variation1nstd102humanPathogenic NCBI36 chr2: 115,776,113-129,545,173 , GRCh37 chr2: 116,059,643-129,828,703 , GRCh38 chr2: 115,302,067-129,071,130 MAP3K2, RPL27P7, 144 more genes
    nsv3910049copy number variation1nstd102humanPathogenic NCBI36 chr20: 33,289,165-45,693,969 , GRCh37 chr20: 33,825,749-46,260,562 , GRCh38 chr20: 35,237,946-47,631,818 LBP, NDUFB4P10, 291 more genes
    nsv3914166copy number variation1nstd102humanPathogenic GRCh37 chr3: 180,856,452-192,229,812 , GRCh38 chr3: 181,138,664-192,512,023 , NCBI36 chr3: 182,339,146-193,712,506 SNORA4, RNU6-1105P, 199 more genes
    nsv3921001copy number variation1nstd102humanPathogenic NCBI36 chr2: 115,444,912-126,178,935 , GRCh37.p13 chr2: 115,728,442-126,462,465 , GRCh38.p12 chr2: 114,970,865-125,704,888 RPL27P7, LINC01826, 94 more genes
    nsv3889486copy number variation1nstd102humanPathogenic GRCh37 chr2: 114,707,932-124,328,692 , GRCh38.p12 chr2: 113,950,355-123,571,116 LOC107985817, GLI2, 91 more genes
    nsv3873783copy number variation1nstd102humanPathogenic GRCh37 chr2: 114,056,441-123,673,800 , GRCh38.p12 chr2: 113,298,864-122,916,224 INHBB, MTATP6P26, 111 more genes
    nsv3880973copy number variation1nstd102humanPathogenic GRCh37 chr2: 117,070,953-126,303,416 , GRCh38.p12 chr2: 116,313,377-125,545,839 LOC105373585, RPS17P7, 86 more genes
    nsv4674710copy number variation1nstd102humanPathogenic GRCh37 chr2: 118,872,395-128,069,813 , GRCh38.p12 chr2: 118,114,819-127,312,237 C2orf76, LOC107985817, 89 more genes
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