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Items: 1 to 20 of 302

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7097800copy number variation1nstd102humanPathogenic GRCh37 chr8: 55,537,210-55,542,913 , GRCh38.p12 chr8: 54,624,650-54,630,353 RP1
    nsv7093508insertion1nstd102humanPathogenic GRCh37 chr8: 55,540,527-55,540,527 , GRCh38 chr8: 54,627,967-54,627,967 RP1
    nsv6314565insertion1nstd102humanPathogenic GRCh37 chr8: 55,539,038-55,539,038 , GRCh38 chr8: 54,626,478-54,626,478 RP1
    nsv6314355insertion1nstd102humanPathogenic GRCh37 chr8: 55,538,533-55,538,533 , GRCh38 chr8: 54,625,973-54,625,973 RP1
    nsv3876290copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 55,532,080-55,543,196 , GRCh38 chr8: 54,619,521-54,630,637 RP1
    nsv3901348copy number variation1nstd102humanBenign GRCh37 chr8: 55,737,041-55,740,933 , GRCh38.p12 chr8: 54,824,481-54,828,373 RP1
    nsv3898394copy number variation1nstd102humanBenign GRCh37 chr8: 55,735,722-55,737,847 , GRCh38.p12 chr8: 54,823,162-54,825,287 RP1
    nsv3901524copy number variation1nstd102humanBenign GRCh37 chr8: 55,737,047-55,737,847 , GRCh38.p12 chr8: 54,824,487-54,825,287 RP1
    nsv3906746copy number variation1nstd102humanBenign GRCh37 chr8: 55,425,954-55,431,361 , GRCh38.p12 chr8: 54,513,394-54,518,801 RP1
    nsv3895563copy number variation1nstd102humanBenign GRCh37 chr8: 55,425,954-55,430,706 , GRCh38.p12 chr8: 54,513,394-54,518,146 RP1
    nsv6636287copy number variation1nstd102humanUncertain significance GRCh37 chr8: 55,545,566-55,603,614 , GRCh38.p12 chr8: 54,633,006-54,691,054 RP1
    nsv3890325copy number variation1nstd102humanBenign GRCh37 chr8: 55,431,361-55,435,208 , GRCh38.p12 chr8: 54,518,801-54,522,648 RP1, SEC11B
    nsv3902254copy number variation1nstd102humanBenign GRCh37 chr8: 55,431,361-55,434,007 , GRCh38.p12 chr8: 54,518,801-54,521,447 RP1, SEC11B
    nsv3907640copy number variation1nstd102humanPathogenic NCBI36 chrX: 135,031,493-135,220,192 , GRCh37 chrX: 135,203,827-135,392,526 , GRCh38 chrX: 136,121,668-136,310,367 FHL1, ADGRG4, 2 more genes
    nsv6637107copy number variation1nstd102humanUncertain significance GRCh37 chr8: 55,677,769-56,007,722 , GRCh38.p12 chr8: 54,765,209-55,095,162 RP1, LOC107986887, 2 more genes
    nsv4730019copy number variation1nstd102humanUncertain significance GRCh37 chr18: 32,369,954-32,572,826 , GRCh38.p12 chr18: 34,789,990-34,992,862 LOC105372061, DTNA, 1 more genes
    nsv3885968copy number variation1nstd102humanPathogenic GRCh37 chr1: 156,070,888-156,238,593 , GRCh38.p12 chr1: 156,101,097-156,268,802 BGLAP, LMNA, 6 more genes
    nsv3904162copy number variation1nstd102humanPathogenic GRCh38 chrX: 10,001-156,030,895 , GRCh37 chrX: 60,001-155,260,560 , NCBI36 chrX: 1-154,913,754 NANOGNBP3, PRXL2CP1, 2154 more genes
    nsv3913255copy number variation2nstd102humanPathogenic NCBI36 chrX: 701-154,913,754 , GRCh37.p13 chrX: 60,701-155,260,560 , GRCh38.p12 chrX: 10,701-156,030,895 NHS-AS1, DUSP21, 2154 more genes
    nsv3907094copy number variation4nstd102humanPathogenic GRCh38 chrX: 10,679-156,022,206 , GRCh37 chrX: 60,679-155,251,871 , NCBI36 chrX: 679-154,905,065 GPR119, RN7SKP81, 2153 more genes
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