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Items: 1 to 20 of 702

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3958790insertion1nstd168human GRCh38 (hg38) chr5: 32,691,062-32,712,112 , GRCh37.p13 chr5: 32,691,168-32,712,218 NPR3
    nsv3926662copy number variation1nstd167human GRCh37 (hg19) chr16: 188,303-188,335 , GRCh38.p12 chr16: 138,304-138,336 NPRL3
    nsv3924736copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr5: 22,149-33,418,188 , GRCh37.p13 chr5: 22,149-33,418,294 , NCBI36 (hg18) chr5: 75,149-33,454,051 NPR3, CDH6, 379 more genes
    nsv3923992copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr5: 49,978-46,114,984 , GRCh37.p13 chr5: 50,093-46,115,086 , NCBI36 (hg18) chr5: 103,093-46,150,843 NPR3, C6, 548 more genes
    nsv3923267copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr16: 43,732-13,326,806 , GRCh37.p13 chr16: 93,732-13,420,663 , NCBI36 (hg18) chr16: 33,732-13,328,164 TNFRSF17, E4F1, 429 more genes
    nsv3923184copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr16: 46,766-3,214,623 , GRCh37.p13 chr16: 96,766-3,264,623 , NCBI36 (hg18) chr16: 36,766-3,204,624 CLCN7, E4F1, 243 more genes
    nsv3923037copy number variation1nstd102humanUncertain significance NCBI36 (hg18) chr16: 12,771-142,232 , GRCh37.p13 chr16: 72,771-202,232 , GRCh38.p12 chr16: 22,771-152,233 POLR3K, IL9RP3, 6 more genes
    nsv3922539copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr5: 54,839-35,680,845 , GRCh37.p13 chr5: 54,954-35,680,947 , NCBI36 (hg18) chr5: 107,954-35,716,704 NPR3, CDH10, 408 more genes
    nsv3922001copy number variation1nstd102humanUncertain significance GRCh38 (hg38) chr16: 46,766-168,972 , GRCh37.p13 chr16: 96,766-218,971 , NCBI36 (hg18) chr16: 36,766-158,971 HBZ, RHBDF1, 8 more genes
    nsv3921341copy number variation1nstd102humanUncertain significance NCBI36 (hg18) chr16: 12,771-373,223 , GRCh37.p13 chr16: 72,771-433,222 , GRCh38.p12 chr16: 22,771-383,222 ARHGDIG, HBA1, 24 more genes
    nsv3920650copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr16: 105,429-1,499,893 , GRCh37.p13 chr16: 155,427-1,549,894 , NCBI36 (hg18) chr16: 95,427-1,489,895 HBM, HBZP1, 93 more genes
    nsv3920615copy number variation1nstd102humanBenign GRCh38 (hg38) chr16: 16,203-129,081 , GRCh37.p13 chr16: 66,203-179,080 , NCBI36 (hg18) chr16: 6,203-119,080 SNRNP25, NPRL3, 7 more genes
    nsv3920214copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr16: 46,766-1,544,014 , GRCh37.p13 chr16: 96,766-1,594,015 , NCBI36 (hg18) chr16: 36,766-1,534,016 HBA1, HBM, 99 more genes
    nsv3919625copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr16: 23,141-1,773,349 , GRCh37.p13 chr16: 73,141-1,823,350 , NCBI36 (hg18) chr16: 13,141-1,763,351 HBAP1, HBZP1, 110 more genes
    nsv3919589copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr16: 46,766-1,997,582 , GRCh37.p13 chr16: 96,766-2,047,583 , NCBI36 (hg18) chr16: 36,766-1,987,584 HAGH, HBZP1, 131 more genes
    nsv3918728copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr5: 4,849,498-36,818,719 , GRCh37.p13 chr5: 4,849,611-36,818,821 , NCBI36 (hg18) chr5: 4,902,611-36,854,578 NPR3, ADCY2, 338 more genes
    nsv3918246copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr16: 29,941-2,560,460 , GRCh37.p13 chr16: 79,941-2,610,461 , NCBI36 (hg18) chr16: 19,941-2,550,462 ABCA3, DNASE1L2, 176 more genes
    nsv3917929copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr16: 46,766-11,525,516 , GRCh37.p13 chr16: 96,766-11,619,372 , NCBI36 (hg18) chr16: 36,766-11,526,873 ADCY9, ARHGDIG, 399 more genes
    nsv3917755copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr16: 46,566-1,800,860 , GRCh37.p13 chr16: 96,566-1,850,861 , NCBI36 (hg18) chr16: 36,566-1,790,862 HBAP1, HBZ, 111 more genes
    nsv3917491copy number variation1nstd102humanUncertain significance NCBI36 (hg18) chr16: 70,526-132,235 , GRCh37.p13 chr16: 130,526-192,235 , GRCh38.p12 chr16: 80,527-142,236 HBZ, NPRL3, 1 more genes
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