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Items: 1 to 20 of 63

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3903965copy number variation1nstd102humanBenign GRCh37 chr21: 30,986,448-30,987,469 , GRCh38.p12 chr21: 29,614,128-29,615,149 GRIK1, GRIK1-AS2
    nsv6314058copy number variation1nstd102humanUncertain significance GRCh37 chr21: 31,263,693-31,555,044 , GRCh38.p12 chr21: 29,891,376-30,182,726 GRIK1, CLDN17
    nsv6313972copy number variation1nstd102humanUncertain significance GRCh37 chr21: 31,006,832-31,237,793 , GRCh38.p12 chr21: 29,634,512-29,865,476 GRIK1, GRIK1-AS1
    nsv4676237copy number variation1nstd102humanUncertain significance GRCh37 chr21: 31,153,738-31,637,350 , GRCh38.p12 chr21: 29,781,420-30,265,032 GRIK1, RPL8P2, 3 more genes
    nsv6637593copy number variation1nstd102humanUncertain significance GRCh37 chr21: 30,911,091-31,189,310 , GRCh38.p12 chr21: 29,538,770-29,816,993 GRIK1, GRIK1-AS1, 2 more genes
    nsv3923176copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,817,158-46,670,440 , NCBI36 chr21: 14,406,909-46,914,780 , GRCh37 chr21: 15,485,038-48,090,352 GRIK1, COL18A1-AS2, 682 more genes
    nsv3905423copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,538,655-48,080,926 , GRCh38.p12 chr21: 14,166,334-46,661,014 GRIK1, MTND5P1, 581 more genes
    nsv3917693copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,749,532-37,653,653 , GRCh37 chr21: 15,451,032-39,025,955 , NCBI36 chr21: 14,372,903-37,947,825 GRIK1, DPRXP5, 448 more genes
    nsv3916181copy number variation1nstd102humanPathogenic GRCh38 chr21: 14,000,720-30,903,065 , GRCh37 chr21: 15,373,041-32,275,384 , NCBI36 chr21: 14,294,912-31,197,255 GRIK1, ADAMTS5, 215 more genes
    nsv3915265copy number variation1nstd102humanPathogenic NCBI36 chr21: 19,717,357-32,135,333 , GRCh37 chr21: 20,795,486-33,213,462 , GRCh38 chr21: 19,423,169-31,841,150 GRIK1, TUBAP1, 169 more genes
    nsv3923006copy number variation1nstd102humanPathogenic GRCh38 chr21: 21,730,831-32,385,468 , GRCh37.p13 chr21: 23,103,151-33,757,777 GRIK1, KRTAP23-1, 161 more genes
    nsv3897196copy number variation1nstd102humanPathogenic GRCh37 chr21: 29,880,468-36,062,331 , NCBI36 chr21: 28,802,339-34,984,201 , GRCh38.p12 chr21: 28,508,147-34,690,032 GRIK1, LOC105369299, 150 more genes
    nsv4676178copy number variation1nstd102humanPathogenic GRCh37 chr21: 27,826,100-32,468,109 , GRCh38.p12 chr21: 26,453,781-31,095,791 GRIK1, GRIK1-AS2, 94 more genes
    nsv3914461copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,749,532-46,698,247 , GRCh37 chr21: 14,577,835-48,118,159 , NCBI36 chr21: 13,499,706-46,942,587 GRIK1, LINC00945, 686 more genes
    nsv3916732copy number variation4nstd102humanUncertain significance, Pathogenic GRCh38 chr21: 7,749,532-46,677,460 , GRCh37 chr21: 15,006,458-48,097,372 , NCBI36 chr21: 13,928,329-46,921,800 GRIK1, MIR6724-4, 685 more genes
    nsv3917878copy number variation4nstd102humanPathogenic NCBI36 chr21: 14,372,903-46,915,400 , GRCh38 chr21: 7,749,532-46,671,060 , GRCh37 chr21: 15,451,032-48,090,972 GRIK1, POLR2CP1, 685 more genes
    nsv3921828copy number variation2nstd102humanPathogenic NCBI36 chr21: 14,435,115-46,914,780 , GRCh38 chr21: 7,749,532-46,670,440 , GRCh37 chr21: 15,513,244-48,090,352 GRIK1, U2AF1, 685 more genes
    nsv3921603copy number variation4nstd102humanPathogenic GRCh38 chr21: 7,749,532-46,670,405 , GRCh37 chr21: 15,499,847-48,090,317 , NCBI36 chr21: 14,421,718-46,914,745 GRIK1, KRTAP12-3, 685 more genes
    nsv3915086copy number variation2nstd102humanPathogenic NCBI36 chr21: 13,499,765-46,914,686 , GRCh37 chr21: 14,577,894-48,090,258 , GRCh38 chr21: 7,749,532-46,670,346 GRIK1, LINC01668, 685 more genes
    nsv3914890copy number variation1nstd102humanPathogenic NCBI36 chr21: 14,406,909-46,908,590 , GRCh38 chr21: 7,749,532-46,664,250 , GRCh37 chr21: 15,485,038-48,084,162 GRIK1, DONSON, 685 more genes
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