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Items: 1 to 20 of 28

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5420391copy number variation1nstd206human GRCh38 chr21: 8,197,839-8,259,650 , GRCh37.p13 chrUn|NT_167214.1: 97,348-146,651 , MIR6724-1, 11 more genes
    nsv5293418copy number variation1nstd204human GRCh38.p13 chr21: 8,193,901-8,260,900 , GRCh37.p13 chrUn|NT_167214.1: 93,406-146,651 , RNA28SN2, 11 more genes
    nsv5288920copy number variation1nstd204human GRCh37.p13 chrUn|NT_167214.1: 98,602-112,951 , GRCh38.p13 chr21: 8,199,101-8,213,500 MIR3648-1, MIR6724-1, 4 more genes
    nsv3970264inversion1nstd168human GRCh37.p13 chr: NaN-NaN , GRCh38 chr21: 6,321,671-9,373,355 , ASNSP2, 77 more genes
    nsv3966512inversion1nstd168human GRCh37.p13 chr: NaN-NaN , GRCh38 chr21: 6,211,689-8,324,623 , LOC100289085, 45 more genes
    nsv3956017complex substitution1nstd168human GRCh38 chr21: 8,101,155-8,258,212 , GRCh37.p13 chrUn|NT_167214.1: 638-146,651 , MIR3648-1, 11 more genes
    nsv3923218copy number variation3nstd102humanPathogenic GRCh38 chr21: 7,749,532-46,623,792 , NCBI36 chr21: 13,550,934-46,868,132 , GRCh37 chr21: 14,629,063-48,043,704 CHODL-AS1, VN1R109P, 683 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 COL18A1-AS2, RCAN1, 682 more genes
    nsv3922048copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,499,847-48,080,911 , GRCh38 chr21: 7,749,532-46,660,999 , NCBI36 chr21: 14,421,718-46,905,339 LINC01548, MIR4759, 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 U2AF1, S100B, 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 KRTAP12-3, KRTAP6-2, 685 more genes
    nsv3921071copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,577,835-48,069,743 , NCBI36 chr21: 13,499,706-46,894,171 , GRCh38 chr21: 7,749,532-46,649,831 LOC105372776, DNMT3L, 684 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 POLR2CP1, LOC105372774, 685 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 DPRXP5, MIR6724-1, 448 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 MIR6724-4, LOC105369306, 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 LOC105372745, RN7SKP236, 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 LINC01668, TIAM1, 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 DONSON, RNU6-123P, 685 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 LINC00945, MIR6508, 686 more genes
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