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Items: 1 to 20 of 328

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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
    nsv7142242copy number variation1nstd232human GRCh37.p13 chr4: 570,690-570,739 , GRCh38.p12 chr4: 576,901-576,950 LOC105374338
    nsv7137196copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,345-34,512,694 , GRCh38.p12 chr4: 68,453-34,511,072 ECM1P2, LOC105378240, 482 more genes
    nsv7097252copy number variation1nstd102humanPathogenic GRCh37 chr4: 493,125-663,896 , GRCh38.p12 chr4: 499,336-670,107 PDE6B, PIGG, 4 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
    nsv7054796inversion1nstd229human GRCh38 chr4: 464,668-619,396 , GRCh37.p13 chr4: 507,005-613,185 PDE6B, LOC100533735, 5 more genes
    nsv6737502copy number variation1nstd229human GRCh38 chr4: 576,930-584,926 , GRCh37.p13 chr4: 570,719-578,715 LOC105374338
    nsv6736703copy number variation1nstd229human GRCh38 chr4: 392,960-701,480 , GRCh37.p13 chr4: 507,005-695,269 PDE6B, SLC49A3, 11 more genes
    nsv6734656copy number variation1nstd229human GRCh38 chr4: 252,620-648,835 , GRCh37.p13 chr4|NW_004775427.1: 242,620-503,215 , GRCh37.p13 chr4: 246,409-507,004 PIGG, ZNF519P4, 13 more genes
    nsv6733132copy number variation1nstd229human GRCh38 chr4: 575,901-736,700 , GRCh37.p13 chr4: 569,690-730,489 MYL5, PDE6B-AS1, 6 more genes
    nsv6731830copy number variation1nstd229human GRCh38 chr4: 584,855-697,995 , GRCh37.p13 chr4: 578,644-691,784 PDE6B, MYL5, 4 more genes
    nsv6636799copy number variation1nstd102humanUncertain significance GRCh37 chr4: 365,898-623,209 , GRCh38.p12 chr4: 372,109-629,420 TMEM271, LOC105374338, 8 more genes
    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
    nsv6570171inversion1nstd223human GRCh38 chr4: 584,897-585,402 , GRCh37.p13 chr4: 578,686-579,191 LOC105374338, PDE6B
    nsv6560648inversion1nstd223human GRCh38 chr4: 585,111-585,386 , GRCh37.p13 chr4: 578,900-579,175 PDE6B, LOC105374338
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