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Items: 1 to 20 of 11723

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv6129480insertion1nstd186human GRCh37 chr19: 6,411,452-6,411,502 , GRCh38.p12 chr19: 6,411,441-6,411,491 KHSRP, LOC390877
    nsv6126878copy number variation1nstd186human GRCh37 chr19: 56,518,339-56,519,449 , GRCh38.p12 chr19: 56,006,973-56,008,083 NLRP5
    nsv6118400copy number variation1nstd186human GRCh37 chr1: 17,705,611-17,705,908 , GRCh38.p12 chr1: 17,379,116-17,379,413 , GRCh38.p12 chr1|NW_011332688.1: 224,339-224,636 PADI6
    nsv6112797copy number variation1nstd102humanPathogenic GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012 ANTKMT, HBA1, 307 more genes
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv6112754copy number variation1nstd102humanPathogenic GRCh37 chr4: 131,303,317-168,722,402 , GRCh38.p12 chr4: 130,382,162-167,801,251 MIR3139, CLGN, 407 more genes
    nsv6112750copy number variation1nstd102humanPathogenic GRCh37 chr2: 81,209,244-86,688,030 , GRCh38.p12 chr2: 80,982,120-86,460,907 VAMP8, TMSB10, 86 more genes
    nsv6112738copy number variation1nstd102humanPathogenic GRCh37 chr6: 149,619-3,951,208 , GRCh38.p12 chr6: 149,619-3,950,974 LINC01600, TUBB2BP1, 66 more genes
    nsv6112714copy number variation1nstd102humanPathogenic GRCh37 chr3: 127,927,712-136,889,323 , GRCh38.p12 chr3: 128,208,869-137,170,481 RNU6-789P, FAM86HP, 169 more genes
    nsv6112709copy number variation1nstd102humanPathogenic GRCh37 chr3: 123,000,000-129,700,000 , GRCh38.p12 chr3: 123,281,153-129,981,157 OR7E97P, MARK3P3, 160 more genes
    nsv6112700copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,385,317-61,223,349 , GRCh37.p13 chr16: 46,419,229-61,257,253 CPNE2, USB1, 275 more genes
    nsv6112699copy number variation1nstd102humanPathogenic GRCh37 chr3: 128,201,205-128,203,154 , GRCh38.p12 chr3: 128,482,362-128,484,311 GATA2
    nsv6112693copy number variation1nstd102humanPathogenic GRCh37 chr3: 128,181,289-128,205,514 , GRCh38.p12 chr3: 128,462,446-128,486,671 GATA2, DNAJB8, 1 more genes
    nsv6112688copy number variation1nstd102humanPathogenic GRCh37 chr3: 120,154,188-128,324,987 , GRCh38.p12 chr3: 120,435,341-128,606,144 RNU4-62P, MTCO1P29, 169 more genes
    nsv6112686copy number variation1nstd102humanPathogenic GRCh37 chr3: 127,889,037-128,565,901 , GRCh38.p12 chr3: 128,170,194-128,847,058 EEFSEC, MARK2P8, 16 more genes
    nsv6112684copy number variation1nstd102humanPathogenic GRCh37 chr3: 128,200,107-128,200,462 , GRCh38 chr3: 128,481,264-128,481,619 GATA2
    nsv6112683copy number variation1nstd102humanPathogenic GRCh37 chr3: 128,199,862-128,200,787 , GRCh38.p12 chr3: 128,481,019-128,481,944 GATA2
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
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