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Items: 1 to 20 of 74

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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
    nsv4683419copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,018,314-24,022,863 , GRCh38.p12 chr1: 23,691,824-23,696,373 RPL11
    nsv4566627mobile element insertion1nstd166human GRCh37.p13 chr1: 24,016,282-24,016,282 , GRCh38.p12 chr1: 23,689,792-23,689,792 RPL11
    nsv4452651copy number variation1nstd102humanPathogenic GRCh38 chr1: 23,695,788-23,696,383 , GRCh37 chr1: 24,022,278-24,022,873 RPL11
    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
    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
    nsv3876561copy number variation1nstd102humanPathogenic GRCh38 chr1: 23,691,814-23,696,383 , GRCh37 chr1: 24,018,304-24,022,873 RPL11
    nsv3126558copy number variation2nstd151human GRCh37 chr1: 24,018,311-24,021,287 , GRCh38.p12 chr1: 23,691,821-23,694,797 RPL11
    nsv3126493copy number variation1nstd151human GRCh37 chr1: 24,018,311-24,018,324 , GRCh38.p12 chr1: 23,691,821-23,691,834 RPL11
    nsv3119656copy number variation2nstd151human GRCh37 chr1: 23,720,370-24,022,868 , GRCh38.p12 chr1|NW_014040926.1: 163,856-349,938 , GRCh38.p12 chr1: 23,393,877-23,696,378 TCEA3, ID3, 8 more genes
    nsv3118630copy number variation1nstd151human GRCh37 chr1: 24,019,096-24,021,287 , GRCh38.p12 chr1: 23,692,606-23,694,797 RPL11
    nsv1422291short tandem repeat1nstd128human GRCh37 chr1: 24,016,332-24,016,359 , GRCh38.p12 chr1: 23,689,842-23,689,869 RPL11
    nsv1422160short tandem repeat6nstd128human GRCh37 chr1: 24,019,391-24,019,406 , GRCh38.p12 chr1: 23,692,901-23,692,916 RPL11
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