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Items: 1 to 20 of 7482

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4449482insertion1nstd175human GRCh37 chr5: 141,975,771-141,975,771 , GRCh38.p12 chr5: 142,596,206-142,596,206 FGF1
    nsv4448769copy number variation1nstd175human GRCh37 chr7: 140,608,586-140,608,803 , GRCh38.p12 chr7: 140,908,786-140,909,003 BRAF
    nsv4448381insertion1nstd175human GRCh37 chr11: 119,124,249-119,124,249 , GRCh38.p12 chr11: 119,253,539-119,253,539 CBL
    nsv4446347insertion1nstd175human GRCh37 chr11: 69,628,592-69,628,592 , GRCh38.p12 chr11: 69,813,824-69,813,824 FGF3
    nsv4444501insertion1nstd175human GRCh37 chr10: 123,343,850-123,343,850 , GRCh38.p12 chr10: 121,584,336-121,584,336 FGFR2
    nsv4440823copy number variation1nstd175human GRCh37 chr20: 35,990,201-35,990,273 , GRCh38.p12 chr20: 37,361,798-37,361,870 SRC
    nsv4440677insertion1nstd175human GRCh37 chr19: 643,104-643,104 , GRCh38.p12 chr19: 643,104-643,104 FGF22
    nsv4436780delins1nstd102humanLikely pathogenic GRCh38 chr7: 140,778,066-140,778,067 , GRCh37.p13 chr7: 140,477,866-140,477,867 BRAF
    nsv4436731copy number variation1nstd102humanPathogenic GRCh37 chr4: 80,482,400-92,572,499 , GRCh38.p12 chr4: 79,561,246-91,651,348 DMP1, HNRNPDL, 152 more genes
    nsv4436724copy number variation1nstd102humanUncertain significance GRCh37 chr12: 4,446,242-4,634,699 , GRCh38.p12 chr12: 4,337,076-4,525,533 C12orf4, FGF23, 2 more genes
    nsv4436354complex substitution1nstd102humanUncertain significance GRCh37 chr17: 9,586,165-16,325,968 , GRCh38.p12 chr17: 9,682,848-16,422,654 MEIS3P1, MYH3, 109 more genes
    nsv4436312complex substitution1nstd102humanPathogenic GRCh37 chr16: 1,280,042-33,710,558 , GRCh38.p12 chr16: 1,230,041-33,908,091 ABAT, ADCY9, 905 more genes
    nsv4436311copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 29,656,657-30,158,469 , GRCh38.p12 chr16: 29,645,336-30,147,148 ALDOA, PPP4C, 31 more genes
    nsv4436308copy number variation1nstd102humanPathogenic GRCh37 chr22: 21,808,950-22,963,000 , GRCh38.p12 chr22: 21,454,661-22,620,530 MAPK1, UBE2L3, 81 more genes
    nsv4436260copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,656,717-30,158,469 , GRCh38.p12 chr16: 29,645,396-30,147,148 TBX6, HIRIP3, 31 more genes
    nsv4436254copy number variation1nstd102humanLikely pathogenic GRCh37 chr4: 116,624,547-126,168,646 , GRCh38.p12 chr4: 115,703,391-125,247,491 FABP2, NDST3, 126 more genes
    nsv4436202copy number variation1nstd102humanUncertain significance GRCh37 chr5: 14,685,137-149,511,942 , GRCh38.p12 chr5: 14,685,028-150,132,379 ACTBP2, ASS1P9, 1808 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 C1QB, CAPZB, 1907 more genes
    nsv4436127complex substitution1nstd102humanLikely pathogenic GRCh37 chr7: 129,367,205-140,482,957 , GRCh38.p12 chr7: 129,727,365-140,783,157 BPGM, CPA1, 190 more genes
    nsv4430623copy number variation1nstd174human GRCh37 chr12: 112,872,104-112,875,395 , GRCh38.p12 chr12: 112,434,300-112,437,591 PTPN11
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