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Items: 1 to 20 of 92

  • The following terms were not found in dbVar: Dimethyluracil, carboxaldehyde.
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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6314238complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr5: 11,420,640-11,420,640 , GRCh37 chr5: 11,420,650-11,420,650 , GRCh38.p12 chr5: 11,420,528-11,420,528 , GRCh38.p12 chr5: 11,420,538-11,420,538 , GRCh37 chr3: 147,428,507-147,428,507 , GRCh37 chr3: 147,428,516-147,428,516 , GRCh38.p12 chr3: 147,710,720-147,710,720 , GRCh38.p12 chr3: 147,710,729-147,710,729 CTNND2
    nsv943554copy number variation2nstd84human GRCh37 chr3: 2,515,397-2,585,889 , GRCh38.p12 chr3: 2,473,713-2,544,205 CNTN4
    nsv939592copy number variation1nstd84human GRCh37 chr5: 180,415,903-180,429,786 , GRCh38.p12 chr5: 180,988,903-181,002,786 BTNL3
    nsv939287copy number variation1nstd84human GRCh37 chr5: 70,346,387-70,359,665 , GRCh38.p12 chr5: 71,050,560-71,063,838 GTF2H2
    nsv943511copy number variation2nstd84human GRCh37 chr3: 37,977,417-37,986,931 , GRCh38.p12 chr3: 37,935,926-37,945,440 CTDSPL
    nsv943086copy number variation1nstd84human GRCh37 chr3: 195,390,959-195,399,551 , GRCh38.p12 chr3: 195,664,088-195,672,680 , GRCh38.p12 chr3|NT_187678.1: 123,364-131,956 , GRCh38.p12 chr3|NT_187688.1: 120,282-128,874 , GRCh38.p12 chr3|NT_187689.1: 34,585-43,177 , GRCh38.p12 chr3|NT_187690.1: 120,994-129,586 , GRCh38.p12 chr3|NT_187691.1: 122,431-131,023 , GRCh38.p12 chr3|NT_187532.1: 34,585-43,177 , GRCh38.p12 chr3|NT_187649.1: 119,720-128,312 SDHAP2
    nsv939545copy number variation1nstd84human GRCh37 chr5: 12,811,684-12,820,120 , GRCh38.p12 chr5: 12,811,572-12,820,008 LOC105374657
    nsv943113copy number variation1nstd84human GRCh37 chr3: 195,698,196-195,701,438 , GRCh38.p12 chr3: 195,971,325-195,974,567 SDHAP1
    nsv938062copy number variation1nstd84human GRCh37 chr5: 72,143,801-72,146,586 , GRCh38.p12 chr5: 72,847,974-72,850,759 TNPO1
    nsv943247copy number variation1nstd84human GRCh37 chr3: 196,537,306-196,539,967 , GRCh38.p12 chr3: 196,810,435-196,813,096 PAK2
    nsv939715copy number variation1nstd84human GRCh37 chr5: 131,543,000-131,545,147 , GRCh38.p12 chr5: 132,207,307-132,209,454 P4HA2
    nsv937646copy number variation1nstd84human GRCh37 chr5: 81,044,986-81,047,026 , GRCh38.p12 chr5: 81,749,167-81,751,207 SSBP2
    nsv939758copy number variation1nstd84human GRCh37 chr5: 140,079,590-140,081,291 , GRCh38.p12 chr5: 140,700,005-140,701,706 ZMAT2
    nsv938108copy number variation1nstd84human GRCh37 chr5: 171,880,887-171,882,368 , GRCh38.p12 chr5: 172,453,883-172,455,364 SH3PXD2B
    nsv943005copy number variation1nstd84human GRCh37 chr3: 47,451,527-47,452,533 , GRCh38.p12 chr3: 47,410,037-47,411,043 PTPN23
    nsv943287copy number variation1nstd84human GRCh37 chr3: 16,639,335-16,640,295 , GRCh38.p12 chr3: 16,597,828-16,598,788 DAZL
    nsv943664copy number variation1nstd84human GRCh37 chr3: 97,783,318-97,784,241 , GRCh38.p12 chr3: 98,064,474-98,065,397 OR5AC1
    nsv939442copy number variation1nstd84human GRCh37 chr5: 1,344,055-1,344,936 , GRCh38.p12 chr5: 1,343,940-1,344,821 , GRCh38.p12 chr5|NT_187547.1: 169,188-170,069 CLPTM1L
    nsv938518copy number variation1nstd84human GRCh37 chr5: 139,682,145-139,683,002 , GRCh38.p12 chr5: 140,302,560-140,303,417 PFDN1
    nsv939737copy number variation1nstd84human GRCh37 chr5: 74,064,758-74,065,190 , GRCh38.p12 chr5: 74,768,933-74,769,365 NSA2
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