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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3886472copy number variation1nstd102humanBenign GRCh37 chr1: 161,168,074-161,172,233 , GRCh38.p12 chr1: 161,198,284-161,202,443 ADAMTS4, NDUFS2
    nsv3903603copy number variation1nstd102humanLikely benign GRCh37 chr21: 28,338,961-28,628,861 , GRCh38.p12 chr21: 26,966,642-27,256,542 LOC105372759, LOC102724355, 2 more genes
    nsv4676268copy number variation1nstd102humanUncertain significance GRCh37 chr21: 28,093,025-28,374,354 , GRCh38.p12 chr21: 26,720,706-27,002,035 LOC105372760, MIR4759, 2 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
    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
    nsv3905423copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,538,655-48,080,926 , GRCh38.p12 chr21: 14,166,334-46,661,014 MTND5P1, RPL37P3, 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 DPRXP5, MIR6724-1, 448 more genes
    nsv6290244copy number variation1nstd102humanPathogenic GRCh37 chr3: 143,439,359-165,252,122 , GRCh38.p12 chr3: 143,720,517-165,534,334 LOC102724145, C3orf80, 273 more genes
    nsv3922838copy number variation1nstd102humanPathogenic GRCh38 chr21: 10,366,915-27,611,416 , GRCh37.p13 chr21: 14,338,130-28,983,735 RN7SL163P, LOC105372759, 178 more genes
    nsv3889882copy number variation1nstd102humanPathogenic GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847 FMO4, RPL30P1, 403 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 ADAMTS5, LINC00307, 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 ZNF114P1, MIR3118-1, 189 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4676306copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-29,325,923 , GRCh38.p12 chr21: 13,634,136-27,953,605 JAM2, LINC01549, 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 CYYR1-AS1, RNU1-98P, 161 more genes
    nsv3909006copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-29,225,300 , GRCh38.p12 chr21: 13,634,136-27,852,981 LOC105372738, MIR8069, 161 more genes
    nsv3917277copy number variation1nstd102humanPathogenic GRCh38 chr21: 13,974,874-27,814,120 , GRCh37.p13 chr21: 15,347,195-29,186,439 SREK1IP1P1, LINC00308, 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 TUBAP1, LOC105372775, 169 more genes
    nsv3923006copy number variation1nstd102humanPathogenic GRCh38 chr21: 21,730,831-32,385,468 , GRCh37.p13 chr21: 23,103,151-33,757,777 KRTAP23-1, LOC105372750, 161 more genes
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
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