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Items: 1 to 20 of 149

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980234inversion1nstd209human GRCh38 chr2: 130,052,690-131,284,721 , GRCh37.p13 chr2: 130,810,263-132,042,294 , PTPN18, 55 more genes
    nsv5968094inversion1nstd209human GRCh38 chr2: 130,018,896-131,305,572 , GRCh37.p13 chr2: 130,776,469-132,063,145 , PTPN18, 61 more genes
    nsv5665937inversion1nstd207human GRCh38 chr2: 130,138,213-131,531,319 , GRCh37.p13 chr2: 130,895,786-132,288,892 , GNAQP1, 84 more genes
    nsv5614135insertion1nstd207human GRCh38 chr2: 130,683,675-130,683,675 , GRCh37.p13 chr2: 131,441,248-131,441,248 CYP4F30P
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5440768copy number variation1nstd206human GRCh38 chr2: 130,679,000-130,684,000 , GRCh37.p13 chr2: 131,436,573-131,441,573 CYP4F30P
    nsv5327037inversion1nstd204human GRCh37.p13 chr2: 130,942,902-132,247,079 , GRCh38.p13 chr2: 130,185,329-131,489,506 , PTPN18, 79 more genes
    nsv5218120copy number variation1nstd204human GRCh38.p13 chr2: 130,683,401-130,701,100 , GRCh37.p13 chr2: 131,440,974-131,458,673 KLF2P3, FAR2P3, 1 more genes
    nsv5214005copy number variation1nstd204human GRCh38.p13 chr2: 130,683,301-130,690,900 , GRCh37.p13 chr2: 131,440,874-131,448,473 KLF2P3, FAR2P3, 1 more genes
    nsv5205936copy number variation1nstd204human GRCh38.p13 chr2: 130,681,201-130,693,400 , GRCh37.p13 chr2: 131,438,774-131,450,973 CYP4F30P, KLF2P3, 1 more genes
    nsv5202184copy number variation1nstd204human GRCh38.p13 chr2: 130,686,301-130,694,400 , GRCh37.p13 chr2: 131,443,874-131,451,973 FAR2P3, KLF2P3, 1 more genes
    nsv5037689inversion1nstd200human GRCh38 chr2: 130,226,386-131,459,405 , GRCh37.p13 chr2: 130,983,959-132,216,978 , MTND6P10, 73 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4889214inversion1nstd200human GRCh37 chr2: 130,983,959-132,216,978 , GRCh38.p12 chr2: 130,226,386-131,459,405 , KLF2P2, 73 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4728442copy number variation1nstd102humanLikely benign GRCh37 chr2: 131,441,737-131,738,211 , GRCh38.p12 chr2: 130,684,164-130,980,638 ARHGEF4, AMER3, 5 more genes
    nsv4684238copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 122,952,356-133,826,358 , GRCh38.p12 chr2: 122,194,780-133,068,785 BIN1, ERCC3, 211 more genes
    nsv4453293copy number variation1nstd102humanUncertain significance GRCh37 chr2: 130,916,858-134,213,436 , GRCh38.p12 chr2: 130,159,285-133,455,865 MIR9986, LOC100859919, 119 more genes
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