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Items: 1 to 20 of 125

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146442insertion1nstd232human GRCh37.p13 chr1: 160,183,052-160,183,052 , GRCh38.p12 chr1: 160,213,262-160,213,262 PEA15
    nsv7099240copy number variation1nstd231human GRCh38.p12 chr1: 159,722,599-161,418,916 , GRCh37 chr1: 159,692,389-161,388,706 APOA2, ATP1A2, 87 more genes
    nsv7042802inversion1nstd229human GRCh38 chr1: 159,324,839-163,640,188 , GRCh37.p13 chr1: 159,294,629-163,609,919 TRG-GCC2-1, LOC107985220, 178 more genes
    nsv7039884inversion1nstd229human GRCh38 chr1: 159,817,036-167,858,499 , GRCh37.p13 chr1: 159,786,826-167,827,737 TRP-AGG2-1, FCGR2C, 228 more genes
    nsv6642893copy number variation1nstd229human GRCh38 chr1: 160,205,523-160,213,108 , GRCh37.p13 chr1: 160,175,313-160,182,898 LOC729867, PEA15
    nsv6637035copy number variation1nstd102humanUncertain significance GRCh37 chr1: 159,778,364-160,770,515 , GRCh38.p12 chr1: 159,808,574-160,800,725 PEX19, SLAMF8, 43 more genes
    nsv6310733copy number variation2nstd102humanUncertain significance GRCh37 chr1: 160,090,676-160,327,063 , GRCh38.p12 chr1: 160,120,886-160,357,273 SUMO1P3, NCSTN, 11 more genes
    nsv6310595copy number variation2nstd102humanUncertain significance GRCh37 chr1: 158,581,054-162,750,036 , GRCh38.p12 chr1: 158,611,264-162,780,246 IGSF8, SETP9, 193 more genes
    nsv6133931copy number variation1nstd213human GRCh37 chr1: 159,860,000-160,630,001 , GRCh38.p12 chr1: 159,890,210-160,660,211 COPA, NHLH1, 33 more genes
    nsv6133742copy number variation1nstd213human GRCh37 chr1: 158,430,000-161,510,001 , GRCh38.p12 chr1: 158,460,210-161,540,211 APCS, FCER1A, 174 more genes
    nsv6133741copy number variation1nstd213human GRCh37 chr1: 158,390,000-161,480,001 , GRCh38.p12 chr1: 158,420,210-161,510,211 ATP1A4, CD48, 169 more genes
    nsv6133740copy number variation1nstd213human GRCh37 chr1: 158,330,000-161,530,001 , GRCh38.p12 chr1: 158,360,210-161,560,211 ATP1A2, ATP1A4, 178 more genes
    nsv6133564copy number variation1nstd213human GRCh37 chr1: 159,330,000-160,200,001 , GRCh38.p12 chr1: 159,360,210-160,230,211 PEA15, OR10J1, 37 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
    nsv4897727copy number variation1nstd200human GRCh38 chr1: 160,207,477-160,207,671 , GRCh37.p13 chr1: 160,177,267-160,177,461 LOC729867, PEA15
    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
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
    nsv4450321copy number variation1nstd102humanUncertain significance GRCh37 chr1: 159,808,188-161,011,163 , GRCh38.p12 chr1: 159,838,398-161,041,373 LOC107985216, PPIAP37, 50 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
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