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Items: 1 to 20 of 153

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5878625copy number variation1nstd209human GRCh38 chr1: 35,587,580-35,587,731 , GRCh37.p13 chr1: 36,053,181-36,053,332 TFAP2E
    nsv5723955mobile element insertion2nstd211human GRCh38 chr1: 35,584,090-35,584,090 , GRCh37.p13 chr1: 36,049,691-36,049,691 TFAP2E
    nsv5569830copy number variation1nstd207human GRCh38 chr1: 35,576,928-35,576,995 , GRCh37.p13 chr1: 36,042,529-36,042,596 TFAP2E-AS1, TFAP2E
    nsv5555819mobile element insertion1nstd206human GRCh38 chr1: 35,584,090-35,584,141 , GRCh37.p13 chr1: 36,049,691-36,049,742 TFAP2E
    nsv5320432translocation1nstd204human GRCh37.p13 chr1: 36,042,568-36,042,568 , GRCh37.p13 chr1: 36,042,614-36,042,614 , GRCh38.p13 chr1: 35,576,967-35,576,967 , GRCh38.p13 chr1: 35,577,013-35,577,013 TFAP2E, TFAP2E-AS1
    nsv4903352copy number variation1nstd200human GRCh38 chr1: 35,585,797-35,596,269 , GRCh37.p13 chr1: 36,051,398-36,061,870 TFAP2E
    nsv4895943copy number variation1nstd200human GRCh38 chr1: 35,579,223-35,584,242 , GRCh37.p13 chr1: 36,044,824-36,049,843 TFAP2E-AS1, TFAP2E
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4734695copy number variation1nstd199human GRCh37 chr1: 36,042,537-36,042,589 , GRCh38.p12 chr1: 35,576,936-35,576,988 TFAP2E-AS1, TFAP2E
    nsv4450314copy number variation1nstd102humanUncertain significance GRCh37 chr1: 34,915,050-36,163,162 , GRCh38.p12 chr1: 34,449,449-35,697,561 LOC105378644, RNY5P1, 27 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4346788copy number variation1nstd102humanPathogenic GRCh37 chr1: 32,859,415-36,454,915 , GRCh38.p12 chr1: 32,393,814-35,989,314 LOC100419802, RPL5P4, 75 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4042347copy number variation1nstd166human GRCh37.p13 chr1: 36,057,019-36,057,537 , GRCh38.p12 chr1: 35,591,418-35,591,936 TFAP2E
    nsv4035198copy number variation1nstd166human GRCh37.p13 chr1: 36,044,852-36,049,816 , GRCh38.p12 chr1: 35,579,251-35,584,215 TFAP2E-AS1, TFAP2E
    nsv3940028copy number variation1nstd167human GRCh37 chr1: 36,042,529-36,042,563 , GRCh38.p12 chr1: 35,576,928-35,576,962 TFAP2E, TFAP2E-AS1
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3890386copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 34,992,126-36,293,498 , GRCh37 chr1: 35,219,539-36,520,911 , GRCh38 chr1: 34,753,938-36,055,310 GJA4, GJB3, 31 more genes
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