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Items: 1 to 20 of 77

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 ALPL, C1QA, 174 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4049893copy number variation1nstd166human GRCh37.p13 chr1: 23,519,470-23,521,359 , GRCh38.p12 chr1: 23,192,977-23,194,866 HTR1D
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv1487657short tandem repeat1nstd128human GRCh37 chr1: 23,520,200-23,520,222 , GRCh38.p12 chr1: 23,193,707-23,193,729 HTR1D
    nsv1487656short tandem repeat3nstd128human GRCh37 chr1: 23,519,509-23,519,520 , GRCh38.p12 chr1: 23,193,016-23,193,027 HTR1D
    nsv1422051short tandem repeat1nstd128human GRCh37 chr1: 23,520,884-23,520,920 , GRCh38.p12 chr1: 23,194,391-23,194,427 HTR1D
    nsv1422050short tandem repeat3nstd128human GRCh37 chr1: 23,517,804-23,517,835 , GRCh38.p12 chr1: 23,191,311-23,191,342 HTR1D
    nsv1421731short tandem repeat1nstd128human GRCh37 chr1: 23,521,504-23,521,518 , GRCh38.p12 chr1: 23,195,011-23,195,025 HTR1D
    nsv1421729short tandem repeat4nstd128human GRCh37 chr1: 23,517,904-23,517,924 , GRCh38.p12 chr1: 23,191,411-23,191,431 HTR1D
    nsv1195401copy number variation1nstd113human NCBI36 chr1: 21,928,724-23,547,367 , GRCh37.p13 chr1: 22,056,137-23,674,780 , GRCh38.p12 chr1: 21,729,644-23,348,287 C1QC, HSPG2, 39 more genes
    nsv1187829copy number variation1nstd113human NCBI36 chr1: 23,321,902-24,483,245 , GRCh37.p13 chr1: 23,449,315-24,610,658 , GRCh38.p12 chr1: 23,122,822-24,284,168 , GALE, 42 more genes
    nsv1146931inversion1nstd107human GRCh37 chr1: 6,858,651-214,875,307 , GRCh38.p12 chr1: 6,798,591-214,701,964 , ABCA4, 4151 more genes
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