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Items: 1 to 20 of 122

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099231copy number variation1nstd231human GRCh38.p12 chr1: 149,962,894-151,006,586 , GRCh37 chr1: 149,934,818-150,979,062 ARNT, CTSK, 48 more genes
    nsv7095319copy number variation1nstd102humanUncertain significance GRCh37 chr1: 150,039,915-150,464,158 , GRCh38.p12 chr1: 150,067,858-150,491,682 MIR6878, C1orf54, 15 more genes
    nsv7056211inversion1nstd229human GRCh38 chr1: 143,881,700-152,159,818 , GRCh37.p13 chr1|NW_003871055.3: 697,113-7,283,150 , PDIA3P1, 333 more genes
    nsv6641911copy number variation1nstd229human GRCh38 chr1: 150,112,501-150,218,700 , GRCh37.p13 chr1: 150,084,616-150,191,000 , GRCh37.p13 chr1|NW_003871055.3: 6,927,914-7,034,113 PLEKHO1, ANP32E, 3 more genes
    nsv6310679copy number variation1nstd102humanUncertain significance GRCh37 chr1: 150,044,213-150,477,474 , GRCh38.p12 chr1: 150,072,146-150,504,998 TARS2, LINC02988, 15 more genes
    nsv6310678copy number variation4nstd102humanUncertain significance GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642 PRPF3, KHDC4, 352 more genes
    nsv6133733copy number variation1nstd213human GRCh37 chr1: 149,980,000-151,620,001 , GRCh38.p12 chr1: 150,008,051-151,647,525 CTSK, MCL1, 80 more genes
    nsv6133732copy number variation1nstd213human GRCh37 chr1: 149,750,000-153,310,001 , GRCh38.p12 chr1: 149,778,444-153,337,525 , CTSK, 183 more genes
    nsv6133499copy number variation1nstd213human GRCh37 chr1: 149,880,000-153,720,001 , GRCh38.p12 chr1: 149,908,448-153,747,525 , CTSK, 198 more genes
    nsv5875361copy number variation1nstd209human GRCh37.p13 chr1|NW_003871055.3: 6,887,192-7,052,980 , GRCh38 chr1: 150,071,779-150,237,567 , GRCh37.p13 chr1: 150,043,844-150,209,915 VPS45, PLEKHO1, 4 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
    nsv4716373copy number variation1nstd195human GRCh37 chr1: 150,000,001-150,452,951 , GRCh38.p12 chr1: 150,028,043-150,480,475 , CA14, 15 more genes
    nsv4378584copy number variation1nstd173human GRCh37 chr1: 149,981,338-150,286,562 , GRCh38.p12 chr1: 150,009,389-150,314,126 , APH1A, 14 more genes
    nsv4378097copy number variation1nstd173human GRCh37 chr1: 150,087,337-150,120,767 , GRCh38.p12 chr1: 150,115,219-150,148,577 VPS45, PLEKHO1
    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
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
    nsv3891069copy number variation1nstd102humanUncertain significance GRCh38 chr1: 150,034,379-150,414,215 , GRCh37 chr1: 150,006,344-150,311,095 , NCBI36 chr1: 148,272,968-148,653,315 C1orf54, ANP32E, 14 more genes
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