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Items: 1 to 20 of 308

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5958361insertion1nstd209human GRCh38 chr2: 215,401,206-215,401,206 , GRCh37.p13 chr2: 216,265,929-216,265,929 FN1
    nsv5687345mobile element insertion1nstd211human GRCh38 chr2: 215,383,859-215,383,859 , GRCh37.p13 chr2: 216,248,582-216,248,582 FN1
    nsv5677092mobile element insertion1nstd211human GRCh38 chr2: 215,412,782-215,412,782 , GRCh37.p13 chr2: 216,277,505-216,277,505 FN1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5438545copy number variation1nstd206human GRCh38 chr2: 215,396,177-215,396,314 , GRCh37.p13 chr2: 216,260,900-216,261,037 FN1
    nsv5409034mobile element insertion1nstd206human GRCh38 chr2: 215,383,859-215,383,910 , GRCh37.p13 chr2: 216,248,582-216,248,633 FN1
    nsv5361297translocation1nstd200human GRCh38 chr2: 215,361,239-215,361,239 , GRCh38 chr2: 215,361,303-215,361,303 , GRCh37.p13 chr2: 216,225,962-216,225,962 , GRCh37.p13 chr2: 216,226,026-216,226,026 FN1
    nsv5079934mobile element insertion1nstd203human GRCh38 chr2: 215,383,842-215,383,859 , GRCh37.p13 chr2: 216,248,565-216,248,582 FN1
    nsv5059949copy number variation1nstd102humanUncertain significance GRCh37 chr2: 216,214,577-216,299,733 , GRCh38 chr2: 215,349,854-215,435,010 FN1-DT, ATIC, 1 more genes
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    nsv4916788copy number variation1nstd200human GRCh38 chr2: 215,397,711-215,399,574 , GRCh37.p13 chr2: 216,262,434-216,264,297 FN1
    nsv4795914copy number variation1nstd200human GRCh37 chr2: 216,262,434-216,264,297 , GRCh38.p12 chr2: 215,397,711-215,399,574 FN1
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4547295insertion1nstd166human GRCh37.p13 chr2: 216,300,886-216,300,886 , GRCh38.p12 chr2: 215,436,163-215,436,163 FN1, FN1-DT
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4436357copy number variation1nstd102humanUncertain significance GRCh37 chr2: 215,485,042-216,474,011 , GRCh38.p12 chr2: 214,620,318-215,609,288 ABCA12, LOC102724861, 9 more genes
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 more genes
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
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