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Items: 1 to 20 of 49

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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 MRPL39, 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 MRPL39, 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 MRPL39, DPRXP5, 448 more genes
    nsv3922838copy number variation1nstd102humanPathogenic GRCh38 chr21: 10,366,915-27,611,416 , GRCh37.p13 chr21: 14,338,130-28,983,735 MRPL39, RN7SL163P, 178 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 MRPL39, ADAMTS5, 215 more genes
    nsv3920431copy number variation1nstd102humanPathogenic NCBI36 chr21: 13,488,537-29,551,400 , GRCh37 chr21: 14,566,666-30,629,529 , GRCh38 chr21: 13,194,345-29,257,208 MRPL39, ZNF114P1, 189 more genes
    nsv4676306copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-29,325,923 , GRCh38.p12 chr21: 13,634,136-27,953,605 MRPL39, JAM2, 161 more genes
    nsv3921072copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,458-29,235,160 , GRCh38 chr21: 13,634,137-27,862,841 , NCBI36 chr21: 13,928,329-28,157,031 MRPL39, CYYR1-AS1, 161 more genes
    nsv3909006copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-29,225,300 , GRCh38.p12 chr21: 13,634,136-27,852,981 MRPL39, LOC105372738, 161 more genes
    nsv3917277copy number variation1nstd102humanPathogenic GRCh38 chr21: 13,974,874-27,814,120 , GRCh37.p13 chr21: 15,347,195-29,186,439 MRPL39, SREK1IP1P1, 141 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 MRPL39, TUBAP1, 169 more genes
    nsv3923006copy number variation1nstd102humanPathogenic GRCh38 chr21: 21,730,831-32,385,468 , GRCh37.p13 chr21: 23,103,151-33,757,777 MRPL39, KRTAP23-1, 161 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 MRPL39, 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 MRPL39, 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 MRPL39, 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 MRPL39, 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 MRPL39, 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 MRPL39, 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 MRPL39, DONSON, 685 more genes
    nsv3915463copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,499,847-48,081,052 , GRCh38 chr21: 7,749,532-46,661,140 , NCBI36 chr21: 14,421,718-46,905,480 MRPL39, LOC105372745, 685 more genes
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