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Items: 1 to 20 of 585

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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
    nsv7147116insertion1nstd232human GRCh37.p13 chr4: 1,358,141-1,358,141 , GRCh38.p12 chr4: 1,364,353-1,364,353 UVSSA
    nsv7145011copy number variation1nstd232human GRCh37.p13 chr4: 1,373,574-1,373,662 , GRCh38.p12 chr4: 1,379,786-1,379,874 UVSSA
    nsv7143826copy number variation1nstd232human GRCh37.p13 chr4: 1,366,517-1,366,648 , GRCh38.p12 chr4: 1,372,729-1,372,860 UVSSA
    nsv7138710copy number variation1nstd232human GRCh37.p13 chr4: 1,373,553-1,373,662 , GRCh38.p12 chr4: 1,379,765-1,379,874 UVSSA
    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
    nsv6734286copy number variation1nstd229human GRCh38 chr4: 1,381,753-1,721,431 , GRCh37.p13 chr4: 1,375,541-1,723,158 TMEM129, FAM53A, 6 more genes
    nsv6730721copy number variation1nstd229human GRCh38 chr4: 1,378,542-1,382,176 , GRCh37.p13 chr4: 1,372,330-1,375,964 UVSSA
    nsv6730554copy number variation1nstd229human GRCh38 chr4: 1,286,014-1,845,501 , GRCh37.p13 chr4: 1,279,802-1,847,228 TMEM129, FGFR3, 12 more genes
    nsv6729848copy number variation1nstd229human GRCh38 chr4: 1,356,101-1,360,015 , GRCh37.p13 chr4: 1,349,889-1,353,803 UVSSA
    nsv6719093copy number variation1nstd229human GRCh38 chr4: 1,359,835-1,359,860 , GRCh37.p13 chr4: 1,353,623-1,353,648 UVSSA
    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
    nsv6636534copy number variation1nstd102humanLikely pathogenic GRCh37 chr4: 963,688-2,913,553 , GRCh38.p12 chr4: 969,900-2,911,826 ADD1, CTBP1, 53 more genes
    nsv6636307copy number variation1nstd102humanUncertain significance GRCh37 chr4: 1,180,181-2,009,278 , GRCh38.p12 chr4: 1,186,393-2,007,551 LOC105374348, SPON2, 22 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
    nsv6567523inversion1nstd223human GRCh38 chr4: 1,351,233-2,522,922 , GRCh37.p13 chr4: 1,345,021-2,524,649 LOC107986250, LOC105374348, 31 more genes
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