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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv7044103inversion1nstd229human GRCh38 chr1: 26,905,652-33,050,814 , GRCh37.p13 chr1: 27,232,143-33,516,415 ADGRB2, SNORA16A, 169 more genes
    nsv6648746copy number variation1nstd229human GRCh38 chr1: 32,206,325-32,209,625 , GRCh37.p13 chr1: 32,671,926-32,675,226 TMEM234, IQCC, 1 more genes
    nsv6648745copy number variation1nstd229human GRCh38 chr1: 32,206,124-32,208,443 , GRCh37.p13 chr1: 32,671,725-32,674,044 IQCC, DCDC2B, 1 more genes
    nsv6330953copy number variation1nstd223human GRCh38 chr1: 32,206,122-32,208,442 , GRCh37.p13 chr1: 32,671,723-32,674,043 DCDC2B, IQCC, 1 more genes
    nsv6313817copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,462,251-32,721,488 , GRCh38.p12 chr1: 31,996,650-32,255,887 DCDC2B, TXLNA, 11 more genes
    nsv6313753copy number variation1nstd102humanUncertain significance GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520 DCDC2B, SNRNP40, 130 more genes
    nsv6133773copy number variation1nstd213human GRCh37 chr1: 31,350,000-33,290,001 , GRCh38.p12 chr1: 30,877,153-32,824,400 ADGRB2, COL16A1, 62 more genes
    nsv5983586copy number variation1nstd212human GRCh38 chr1: 30,209,364-32,642,526 , GRCh37.p13 chr1: 30,682,211-33,108,127 , HDAC1, 69 more genes
    nsv5428746copy number variation1nstd206human GRCh38 chr1: 32,206,122-32,208,442 , GRCh37.p13 chr1: 32,671,723-32,674,043 IQCC, TMEM234, 1 more genes
    nsv5361103translocation1nstd200human GRCh38 chr1: 32,206,122-32,206,122 , GRCh38 chr1: 32,208,442-32,208,442 , GRCh37.p13 chr1: 32,674,043-32,674,043 , GRCh37.p13 chr1: 32,671,723-32,671,723 IQCC, TMEM234, 1 more genes
    nsv4895809copy number variation1nstd200human GRCh38 chr1: 32,202,732-32,205,311 , GRCh37.p13 chr1: 32,668,333-32,670,912 CCDC28B, TMEM234, 1 more genes
    nsv4772963copy number variation1nstd200human GRCh37 chr1: 32,671,723-32,674,043 , GRCh38.p12 chr1: 32,206,122-32,208,442 TMEM234, IQCC, 1 more genes
    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
    nsv4674454copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 30,819,875-34,380,419 , GRCh38.p12 chr1: 30,347,028-33,914,818 AK2, ADGRB2, 97 more genes
    nsv4594479copy number variation1nstd183human GRCh37 chr1: 32,671,707-32,673,618 , GRCh38.p12 chr1: 32,206,106-32,208,017 TMEM234, DCDC2B, 1 more genes
    nsv4454237copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,139,063-32,940,848 , GRCh38.p12 chr1: 31,673,462-32,475,247 IQCC, TSSK3, 26 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
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