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Items: 1 to 20 of 101

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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
    nsv4903204copy number variation1nstd200human GRCh38 chr1: 23,713,966-24,337,591 , GRCh37.p13 chr1: 24,040,456-24,664,081 , IL22RA1, 25 more genes
    nsv4895370copy number variation1nstd200human GRCh38 chr1: 23,953,882-23,958,489 , GRCh37.p13 chr1: 24,280,372-24,284,979 PNRC2
    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
    nsv4647692copy number variation1nstd186human GRCh37 chr1: 24,284,000-24,291,000 , GRCh38.p12 chr1: 23,957,510-23,964,510 PNRC2, SRSF10
    nsv4594392copy number variation2nstd183human GRCh37 chr1: 24,289,857-24,289,960 , GRCh38.p12 chr1: 23,963,367-23,963,470 PNRC2, SRSF10
    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
    nsv4045457copy number variation1nstd166human GRCh37.p13 chr1: 24,284,000-24,291,000 , GRCh38.p12 chr1: 23,957,510-23,964,510 SRSF10, PNRC2
    nsv3902460copy number variation1nstd102humanLikely benign NCBI36 chr1: 24,155,613-24,178,340 , GRCh37 chr1: 24,283,026-24,305,753 , GRCh38 chr1: 23,956,536-23,979,263 SRSF10, PNRC2
    nsv3899118copy number variation1nstd102humanLikely benign NCBI36 chr1: 24,155,613-24,200,205 , GRCh38 chr1: 23,956,536-24,001,128 , GRCh37 chr1: 24,283,026-24,327,618 LOC105378615, PNRC2, 1 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
    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
    nsv1142756copy number variation1nstd106human GRCh37 chr1: 24,256,600-24,363,100 , GRCh38.p12 chr1: 23,930,110-24,036,610 SRSF10, PNRC2, 3 more genes
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