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Items: 1 to 20 of 104

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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
    nsv5219260copy number variation1nstd204human GRCh38.p13 chr1: 26,596,401-26,818,700 , GRCh37.p13 chr1: 26,922,892-27,145,191 LOC105376888, PIGV, 3 more genes
    nsv5209383copy number variation1nstd204human GRCh38.p13 chr1: 26,758,701-26,803,400 , GRCh37.p13 chr1: 27,085,192-27,129,891 ARID1A, PIGV
    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
    nsv4580966copy number variation1nstd183human GRCh37 chr1: 27,039,290-27,468,019 , GRCh38.p12 chr1: 26,712,799-27,141,528 GPN2, ARID1A, 15 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
    nsv4326321sequence alteration1nstd166human GRCh38.p12 chr1: 26,508,516-26,804,975 , GRCh37.p13 chr1: 26,835,007-27,131,466 , GRCh38.p12 chr1|NW_009646195.1: 1-166,200 RPS6KA1, ARID1A, 6 more genes
    nsv4313420sequence alteration1nstd166human GRCh37.p13 chr1: 27,089,972-27,281,573 , GRCh38.p12 chr1: 26,763,481-26,955,082 ARID1A, SFN, 8 more genes
    nsv4052090copy number variation1nstd166human GRCh37.p13 chr1: 27,124,292-27,124,636 , GRCh38.p12 chr1: 26,797,801-26,798,145 PIGV
    nsv4051850copy number variation1nstd166human GRCh37.p13 chr1: 27,122,000-27,135,000 , GRCh38.p12 chr1: 26,795,509-26,808,509 PIGV
    nsv4042982copy number variation1nstd166human GRCh37.p13 chr1: 27,112,965-27,118,857 , GRCh38.p12 chr1: 26,786,474-26,792,366 PIGV
    nsv3937349insertion1nstd167human GRCh37 chr1: 27,126,751-27,126,751 , GRCh38.p12 chr1: 26,800,260-26,800,260 PIGV
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3886856copy number variation1nstd102humanUncertain significance GRCh37 chr1: 27,119,557-27,547,784 , GRCh38.p12 chr1: 26,793,066-27,221,293 LOC102723760, NPM1P39, 19 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
    nsv3119455copy number variation1nstd151human GRCh37 chr1: 26,365,648-27,609,945 , GRCh38.p12 chr1: 26,039,157-27,283,454 , CD52, 53 more genes
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