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Items: 1 to 20 of 152

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099255copy number variation1nstd231human GRCh38.p12 chr1: 192,358,641-201,911,882 , GRCh37 chr1: 192,327,771-201,881,010 CACNA1S, CSRP1, 120 more genes
    nsv7093373copy number variation1nstd102humanUncertain significance GRCh37 chr1: 196,670,448-197,898,389 , GRCh38.p12 chr1: 196,701,318-197,929,259 LHX9, ASPM, 19 more genes
    nsv7046755inversion1nstd229human GRCh38 chr1: 197,153,978-198,848,199 , GRCh37.p13 chr1: 197,123,108-198,817,328 FAM204BP, RPL24P5, 15 more genes
    nsv6673972copy number variation1nstd229human GRCh38 chr1: 197,727,242-197,774,620 , GRCh37.p13 chr1: 197,696,372-197,743,750 DENND1B, FAM204BP, 1 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6636659copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 189,633,885-199,854,163 , GRCh38.p12 chr1: 189,664,755-199,885,035 F13B, CFH, 88 more genes
    nsv6636303copy number variation1nstd102humanPathogenic GRCh37 chr1: 193,011,753-199,882,947 , GRCh38.p12 chr1: 193,042,623-199,913,819 RPS2P9, ASPM, 60 more genes
    nsv6549148inversion1nstd223human GRCh38 chr1: 197,405,080-199,905,342 , GRCh37.p13 chr1: 197,374,210-199,874,470 FAM204BP, RPL23AP16, 25 more genes
    nsv6332469copy number variation1nstd223human GRCh38 chr1: 197,733,343-197,733,850 , GRCh37.p13 chr1: 197,702,473-197,702,980 DENND1B, RPL24P5
    nsv6298182copy number variation1nstd186human GRCh37 chr1: 197,003,162-198,463,889 , GRCh38.p12 chr1: 197,034,032-198,494,759 PRR13P1, ZBTB41, 14 more genes
    nsv6133961copy number variation1nstd213human GRCh37 chr1: 197,530,000-198,030,001 , GRCh38.p12 chr1: 197,560,870-198,060,871 LHX9, DENND1B, 4 more genes
    nsv6133960copy number variation1nstd213human GRCh37 chr1: 196,820,000-204,810,001 , GRCh38.p12 chr1: 196,850,870-204,840,873 ELF3, NR5A2, 181 more genes
    nsv6133957copy number variation1nstd213human GRCh37 chr1: 192,200,000-199,690,001 , GRCh38.p12 chr1: 192,230,870-199,720,873 PTPRC, RGS2, 73 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133842copy number variation1nstd213human GRCh37 chr1: 196,810,000-202,980,001 , GRCh38.p12 chr1: 196,840,870-203,010,873 ELF3, NR5A2, 120 more genes
    nsv6133611copy number variation1nstd213human GRCh37 chr1: 191,020,000-199,730,001 , GRCh38.p12 chr1: 191,050,870-199,760,873 F13B, CFH, 79 more genes
    nsv5883682copy number variation1nstd209human GRCh38 chr1: 197,735,663-197,738,557 , GRCh37.p13 chr1: 197,704,793-197,707,687 RPL24P5, DENND1B
    nsv5829147copy number variation1nstd209human GRCh38 chr1: 197,735,630-197,738,621 , GRCh37.p13 chr1: 197,704,760-197,707,751 RPL24P5, DENND1B
    nsv5673314copy number variation1nstd102humanPathogenic GRCh37 chr1: 196,918,585-197,742,062 , GRCh38.p12 chr1: 196,949,455-197,772,932 CFHR5, DENND1B, 11 more genes
    nsv5453217copy number variation1nstd206human GRCh38 chr1: 197,034,032-198,494,759 , GRCh37.p13 chr1: 197,003,162-198,463,889 MRPS21P3, PRR13P1, 14 more genes
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