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Items: 1 to 20 of 710

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147829copy number variation1nstd232human GRCh37.p13 chr17: 18,148,971-18,149,053 , GRCh38.p12 chr17: 18,245,657-18,245,739 , GRCh38.p12 chr17|NW_017363819.1: 6,031-6,113 FLII
    nsv7145751copy number variation1nstd232human GRCh37.p13 chr17: 18,149,532-18,149,616 , GRCh38.p12 chr17: 18,246,218-18,246,302 , GRCh38.p12 chr17|NW_017363819.1: 6,592-6,676 FLII
    nsv7145570copy number variation1nstd232human GRCh37.p13 chr17: 18,150,365-18,150,480 , GRCh38.p12 chr17: 18,247,051-18,247,166 , GRCh38.p12 chr17|NW_017363819.1: 7,425-7,540 FLII
    nsv7145080copy number variation1nstd232human GRCh37.p13 chr17: 18,182,766-18,182,898 , GRCh38.p12 chr17: 18,279,452-18,279,584 , GRCh38.p12 chr17|NW_017363819.1: 39,826-39,958 TOP3A
    nsv7141390copy number variation1nstd232human GRCh37.p13 chr17: 18,149,773-18,149,903 , GRCh38.p12 chr17: 18,246,459-18,246,589 , GRCh38.p12 chr17|NW_017363819.1: 6,833-6,963 FLII
    nsv7138439copy number variation1nstd232human GRCh37.p13 chr17: 18,150,138-18,150,221 , GRCh38.p12 chr17: 18,246,824-18,246,907 , GRCh38.p12 chr17|NW_017363819.1: 7,198-7,281 FLII
    nsv7095078copy number variation1nstd102humanUncertain significance GRCh37 chr17: 18,178,116-18,178,314 , GRCh38.p12 chr17: 18,274,802-18,275,000 , GRCh38.p12 chr17|NW_017363819.1: 35,176-35,374 TOP3A
    nsv7094959copy number variation1nstd102humanUncertain significance GRCh37 chr17: 18,217,893-18,218,092 , GRCh38.p12 chr17: 18,314,579-18,314,778 , GRCh38.p12 chr17|NW_017363819.1: 74,953-75,152 TOP3A, SMCR8
    nsv6314602complex chromosomal rearrangement9nstd102humanPathogenic GRCh38.p12 chr: NaN-NaN , GRCh37 chr11: 628,154-628,154 , GRCh37 chr11: 46,010,192-46,010,192 , GRCh37 chr11: 46,010,194-46,010,194 , GRCh37 chr11: 628,154-628,154 , GRCh37 chr11: 196,401-196,401 , GRCh37 chr11: 196,401-196,401 , GRCh37 chr13: 71,736,082-71,736,082 , GRCh37 chr13: 71,736,081-71,736,081 , GRCh37 chr17: 18,161,151-18,161,151 , GRCh37 chr17: 18,161,153-18,161,153 , GRCh37 chr17: 36,205,410-36,205,410 , GRCh37 chr18: 10,362,350-10,362,350 , GRCh37 chr18: 1-1 , GRCh37 chr18: 10,362,350-10,362,350 , GRCh37 chr21: 39,353,931-39,353,931 , GRCh37 chr21: 16,138,062-16,138,062 , GRCh37 chr21: 16,138,064-16,138,064 , GRCh37 chr21: 39,353,931-39,353,931 , GRCh38.p12 chr11: 196,401-196,401 , GRCh38.p12 chr11: 628,154-628,154 , GRCh38.p12 chr11: 196,401-196,401 , GRCh38.p12 chr11: 628,154-628,154 , GRCh38.p12 chr11: 45,988,641-45,988,641 , GRCh38.p12 chr11: 45,988,643-45,988,643 , GRCh38.p12 chr17: 18,257,837-18,257,837 , GRCh38.p12 chr17: 37,845,786-37,845,786 , GRCh38.p12 chr17: 18,257,839-18,257,839 , GRCh38.p12 chr18: 10,362,353-10,362,353 , GRCh38.p12 chr18: 10,362,353-10,362,353 , GRCh38.p12 chr21: 37,981,629-37,981,629 , GRCh38.p12 chr21: 14,765,741-14,765,741 , GRCh38.p12 chr21: 14,765,743-14,765,743 , GRCh38.p12 chr21: 37,981,629-37,981,629 , GRCh38.p12 chr17|NW_017363819.1: 18,211-18,211 , GRCh38.p12 chr17|NW_017363819.1: 18,213-18,213 , GRCh38.p12 chr13: 71,161,950-71,161,950 , GRCh38.p12 chr13: 71,161,949-71,161,949 , GRCh38.p12 chr11|NT_187586.1: 158,053-158,053 , GRCh38.p12 chr11|NT_187586.1: 158,053-158,053 , GRCh38.p12 chr17|NT_187614.1: 2,084,475-2,084,475 FLII, SCT, 5 more genes
    nsv6307479copy number variation1nstd186human GRCh37 chr17: 18,319,147-18,334,425 , GRCh38.p12 chr17: 18,415,833-18,431,111 , GRCh38.p12 chr17|NW_017363819.1: 185,812-201,090 KRT17P5, KRT17P2, 1 more genes
    nsv6307269copy number variation1nstd186human GRCh37 chr17: 18,316,425-18,322,425 , GRCh38.p12 chr17: 18,413,111-18,419,111 , GRCh38.p12 chr17|NW_017363819.1: 183,090-189,090 LINC02076, YWHAEP2
    nsv6306577copy number variation1nstd186human GRCh37 chr17: 18,344,425-18,413,314 , GRCh38.p12 chr17: 18,441,111-18,510,000 , GRCh38.p12 chr17|NW_017363819.1: 211,090-276,292 NOS2P2, USP32P2, 5 more genes
    nsv6306364copy number variation1nstd186human GRCh37 chr17: 18,269,975-18,271,651 , GRCh38.p12 chr17: 18,366,661-18,368,337 , GRCh38.p12 chr17|NW_017363819.1: 136,637-138,315 0
    nsv6306123copy number variation1nstd186human GRCh37 chr17: 18,282,314-18,288,425 , GRCh38.p12 chr17|NW_017363819.1: 148,979-155,090 , GRCh38.p12 chr17: 18,379,000-18,385,111 EVPLL
    nsv6128056copy number variation1nstd186human GRCh37 chr17: 18,340,425-18,466,064 , GRCh38.p12 chr17|NW_017363819.1: 207,090-276,292 , GRCh38.p12 chr17: 18,437,111-18,562,750 LOC105371570, FAM106A, 9 more genes
    nsv6126000copy number variation1nstd186human GRCh37 chr17: 18,241,329-18,241,638 , GRCh38.p12 chr17: 18,338,015-18,338,324 , GRCh38.p12 chr17|NW_017363819.1: 98,389-98,698 SHMT1
    nsv6116018copy number variation1nstd186human GRCh37 chr17: 18,347,614-18,383,914 , GRCh38.p12 chr17: 18,444,300-18,480,600 , GRCh38.p12 chr17|NW_017363819.1: 214,279-250,579 TNPO1P2, KRT16P4, 2 more genes
    nsv6113008mobile element insertion1nstd186human GRCh37 chr17: 18,295,013-18,295,063 , GRCh38.p12 chr17: 18,391,699-18,391,749 , GRCh38.p12 chr17|NW_017363819.1: 161,678-161,728 0
    nsv5393402copy number variation1nstd186human GRCh37 chr17: 18,270,209-18,271,619 , GRCh38.p12 chr17: 18,366,895-18,368,305 , GRCh38.p12 chr17|NW_017363819.1: 136,871-138,283 0
    nsv5392050copy number variation1nstd186human GRCh37 chr17: 18,270,329-18,271,333 , GRCh38.p12 chr17: 18,367,015-18,368,019 , GRCh38.p12 chr17|NW_017363819.1: 136,991-137,997 0
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