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Items: 1 to 20 of 156

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3898599copy number variation1nstd102humanBenign GRCh37 chr12: 131,147,921-131,153,525 , GRCh38.p12 chr12: 130,663,376-130,668,980 RIMBP2
    nsv3903093copy number variation1nstd102humanBenign GRCh37 chr12: 131,147,998-131,153,525 , GRCh38.p12 chr12: 130,663,453-130,668,980 RIMBP2
    nsv3908099copy number variation1nstd102humanBenign GRCh37 chr12: 131,145,869-131,150,048 , GRCh38.p12 chr12: 130,661,324-130,665,503 RIMBP2
    nsv3899669copy number variation1nstd102humanBenign GRCh37 chr12: 131,146,984-131,150,048 , GRCh38.p12 chr12: 130,662,439-130,665,503 RIMBP2
    nsv3907684copy number variation1nstd102humanBenign GRCh37 chr12: 131,132,045-131,134,785 , GRCh38.p12 chr12: 130,647,500-130,650,240 RIMBP2
    nsv3923518copy number variation1nstd102humanBenign NCBI36 chr12: 331,810-346,029 , GRCh38 chr12: 352,383-366,602 , GRCh37 chr12: 461,549-475,768 KDM5A
    nsv3922018copy number variation1nstd102humanUncertain significance NCBI36 chr12: 129,527,509-129,698,992 , GRCh37.p13 chr12: 130,961,556-131,133,039 , GRCh38.p12 chr12: 130,477,011-130,648,494 RIMBP2
    nsv3887237copy number variation1nstd102humanBenign GRCh37 chr1: 202,595,153-202,721,148 , GRCh38.p12 chr1: 202,626,025-202,752,020 SYT2, KDM5B
    nsv3905374copy number variation1nstd102humanBenign GRCh37 chr12: 413,738-505,759 , GRCh38.p12 chr12: 304,572-396,593 KDM5A, LOC105369594, 1 more genes
    nsv3873477copy number variation1nstd102humanUncertain significance GRCh37 chr1: 202,407,113-202,727,279 , GRCh38.p12 chr1: 202,437,985-202,758,151 RPS27P8, SYT2, 3 more genes
    nsv4455311copy number variation1nstd102humanUncertain significance GRCh37 chr12: 491,089-670,269 , GRCh38.p12 chr12: 381,923-561,103 LOC105369594, B4GALNT3, 2 more genes
    nsv4457180copy number variation1nstd102humanUncertain significance GRCh37 chr12: 305,296-464,652 , GRCh38.p12 chr12: 196,130-355,486 SLC6A12, LOC102723544, 3 more genes
    nsv3921909copy number variation1nstd102humanUncertain significance GRCh38 chr12: 130,648,435-130,806,970 , GRCh37 chr12: 131,132,980-131,291,515 , NCBI36 chr12: 129,698,933-129,857,468 LOC105370080, RIMBP2, 1 more genes
    nsv3923798copy number variation1nstd102humanUncertain significance NCBI36 chr12: 269,314-411,361 , GRCh37.p13 chr12: 399,053-541,100 , GRCh38.p12 chr12: 289,887-431,934 CCDC77, KDM5A, 1 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 CRB1, STX6, 1608 more genes
    nsv3920790copy number variation1nstd102humanPathogenic GRCh38 chr3: 134,257,180-149,729,538 , NCBI36 chr3: 135,458,712-150,930,015 , GRCh37 chr3: 133,976,022-149,447,325 RBP2, TFDP2, 203 more genes
    nsv3920279copy number variation1nstd102humanPathogenic GRCh38 chr3: 129,817,243-143,381,624 , GRCh37 chr3: 129,536,086-143,100,466 , NCBI36 chr3: 131,018,776-144,583,156 RBP2, NPHP3-AS1, 218 more genes
    nsv3921297copy number variation1nstd102humanPathogenic NCBI36 chr3: 133,918,512-145,986,275 , GRCh38 chr3: 132,716,978-144,784,743 , GRCh37 chr3: 132,435,822-144,503,585 RBP2, BFSP2, 169 more genes
    nsv3914757copy number variation1nstd102humanPathogenic NCBI36 chr3: 131,018,776-142,626,687 , GRCh38 chr3: 129,817,243-141,425,155 , GRCh37 chr3: 129,536,086-141,143,997 RBP2, CLSTN2-AS1, 177 more genes
    nsv3921636copy number variation1nstd102humanPathogenic GRCh38 chr3: 135,227,451-145,870,770 , NCBI36 chr3: 136,428,983-147,071,247 , GRCh37 chr3: 134,946,293-145,588,557 RBP2, A4GNT, 134 more genes
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