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Items: 1 to 20 of 135

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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
    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
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 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
    nsv6325390copy number variation1nstd223human GRCh38 chr1: 198,859,301-198,861,400 , GRCh37.p13 chr1: 198,828,430-198,830,529 MIR181A1HG, MIR181B1, 1 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
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4673925copy number variation1nstd102humanPathogenic GRCh37 chr1: 177,551,193-199,599,056 , GRCh38.p12 chr1: 177,582,058-199,629,928 QSOX1, PTPRC, 263 more genes
    nsv4452394copy number variation1nstd102humanUncertain significance GRCh37 chr1: 196,315,481-200,200,856 , GRCh38.p12 chr1: 196,346,351-200,231,728 LOC100420255, PEBP1P3, 50 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
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