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Items: 1 to 20 of 115

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv4659597copy number variation1nstd186human GRCh37 chr1: 160,068,748-160,068,793 , GRCh38.p12 chr1: 160,098,958-160,099,003 IGSF8
    nsv4594005copy number variation1nstd183human GRCh37 chr1: 160,068,748-160,068,793 , GRCh38.p12 chr1: 160,098,958-160,099,003 IGSF8
    nsv4579767copy number variation1nstd183human GRCh37 chr1: 160,068,371-160,068,793 , GRCh38.p12 chr1: 160,098,581-160,099,003 IGSF8
    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
    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
    nsv3906717copy number variation1nstd102humanPathogenic GRCh38 chr1: 159,479,887-166,895,086 , GRCh37 chr1: 159,449,677-166,864,323 , NCBI36 chr1: 157,716,301-165,130,947 NOS1AP, LY9, 220 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
    nsv3899974copy number variation2nstd102humanBenign NCBI36 chr1: 158,296,040-158,372,610 , GRCh37 chr1: 160,029,416-160,105,986 , GRCh38 chr1: 160,059,626-160,136,196 KCNJ9, KCNJ10, 2 more genes
    nsv3890307copy number variation1nstd102humanBenign NCBI36 chr1: 158,296,040-158,453,926 , GRCh37 chr1: 160,029,416-160,187,302 , GRCh38 chr1: 160,059,626-160,217,512 ATP1A2, ATP1A4, 7 more genes
    nsv3890224copy number variation1nstd102humanPathogenic GRCh38 chr1: 157,747,246-176,021,247 , GRCh37 chr1: 157,717,036-175,990,383 , NCBI36 chr1: 155,983,660-174,257,006 LOC101928596, KCNJ10, 475 more genes
    nsv3889882copy number variation1nstd102humanPathogenic GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847 FMO4, RPL30P1, 403 more genes
    nsv3888295copy number variation2nstd102humanUncertain significance GRCh37 chr1: 160,011,163-160,111,132 , GRCh38.p12 chr1: 160,041,373-160,141,342 KCNJ9, IGSF8, 2 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884593copy number variation1nstd102humanPathogenic NCBI36 chr1: 157,610,062-160,185,096 , GRCh37.p13 chr1: 159,343,438-161,918,472 , GRCh38.p12 chr1: 159,373,648-161,948,682 OR10AE1P, USP21, 148 more genes
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