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Items: 1 to 20 of 560

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148161copy number variation1nstd102humanPathogenic GRCh38 chr4: 1-49,062,177 , GRCh37.p13 chr4: 507,005-49,064,194 SLIRPP2, STIM2-AS1, 659 more genes
    nsv7148157copy number variation1nstd102humanPathogenic GRCh38 chr4: 85,624-57,073,230 , GRCh37.p13 chr4: 507,005-57,939,396 OR7E84P, FAM193A, 764 more genes
    nsv7145859copy number variation1nstd232human GRCh37.p13 chr4: 783,738-783,852 , GRCh38.p12 chr4: 789,950-790,064 CPLX1, LOC105374339
    nsv7144981insertion1nstd232human GRCh37.p13 chr4: 819,767-819,767 , GRCh38.p12 chr4: 825,979-825,979 CPLX1
    nsv7137196copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,345-34,512,694 , GRCh38.p12 chr4: 68,453-34,511,072 ECM1P2, LOC105378240, 482 more genes
    nsv7097251copy number variation1nstd102humanUncertain significance GRCh37 chr4: 493,125-1,843,544 , GRCh38.p12 chr4: 499,336-1,841,817 PDE6B, LOC105374339, 44 more genes
    nsv7096733copy number variation1nstd102humanPathogenic GRCh37 chr4: 520,808-1,020,391 , GRCh38.p12 chr4: 527,019-1,026,603 PDE6B-AS1, PIGG, 19 more genes
    nsv7056080inversion1nstd229human GRCh38 chr4: 802,364-1,026,131 , GRCh37.p13 chr4: 796,152-1,019,919 LOC105374341, LOC105374340, 7 more genes
    nsv6735965copy number variation1nstd229human GRCh38 chr4: 816,659-817,395 , GRCh37.p13 chr4: 810,447-811,183 CPLX1
    nsv6733606copy number variation1nstd229human GRCh38 chr4: 799,601-802,700 , GRCh37.p13 chr4: 793,389-796,488 CPLX1
    nsv6730128copy number variation1nstd229human GRCh38 chr4: 813,467-1,049,563 , GRCh37.p13 chr4: 807,255-1,043,351 TMEM175, LOC105374341, 8 more genes
    nsv6727806copy number variation1nstd229human GRCh38 chr4: 763,979-789,290 , GRCh37.p13 chr4: 757,767-783,078 PCGF3, LOC105374339, 2 more genes
    nsv6724456copy number variation1nstd229human GRCh38 chr4: 809,397-809,447 , GRCh37.p13 chr4: 803,185-803,235 CPLX1
    nsv6636691copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,346-2,437,290 , GRCh38.p12 chr4: 68,454-2,435,563 SPON2, TACC3, 77 more genes
    nsv6636582copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,346-12,369,983 , GRCh38.p12 chr4: 68,454-12,368,359 NELFA, OR7E111FP, 289 more genes
    nsv6636256copy number variation1nstd102humanPathogenic GRCh37 chr4: 1-12,785,001 , GRCh38.p12 chr4: 10,001-12,783,377 AFAP1-AS1, LOC389199, 294 more genes
    nsv6634358copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,345-49,089,361 , GRCh38.p12 chr4: 68,453-49,087,344 LINC02475, LOC105374344, 658 more genes
    nsv6374813copy number variation1nstd223human GRCh38 chr4: 816,659-817,395 , GRCh37.p13 chr4: 810,447-811,183 CPLX1
    nsv6368543copy number variation1nstd223human GRCh38 chr4: 812,714-856,151 , GRCh37.p13 chr4: 806,502-849,939 GAK, LOC105374340, 1 more genes
    nsv6367197copy number variation1nstd223human GRCh38 chr4: 813,467-1,049,563 , GRCh37.p13 chr4: 807,255-1,043,351 IDUA, LOC105374341, 8 more genes
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