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Items: 1 to 20 of 259

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7044628inversion1nstd229human GRCh38 chr2: 144,548,617-144,548,729 , GRCh37.p13 chr2: 145,306,184-145,306,296 LINC01412
    nsv6696798copy number variation1nstd229human GRCh38 chr2: 144,557,358-144,560,020 , GRCh37.p13 chr2: 145,314,925-145,317,587 LINC01412
    nsv6696001copy number variation1nstd229human GRCh38 chr2: 144,535,909-144,535,977 , GRCh37.p13 chr2: 145,293,476-145,293,544 LINC01412
    nsv6692164copy number variation1nstd229human GRCh38 chr2: 142,173,482-145,423,511 , GRCh37.p13 chr2: 142,931,051-146,181,079 LOC100505498, MTCO2P5, 29 more genes
    nsv6691362copy number variation1nstd229human GRCh38 chr2: 144,556,177-144,557,608 , GRCh37.p13 chr2: 145,313,744-145,315,175 LINC01412
    nsv6553116inversion1nstd223human GRCh38 chr2: 144,528,680-144,529,116 , GRCh37.p13 chr2: 145,286,247-145,286,683 LINC01412
    nsv6352329copy number variation1nstd223human GRCh38 chr2: 144,570,297-144,570,766 , GRCh37.p13 chr2: 145,327,864-145,328,333 LINC01412
    nsv6350393copy number variation1nstd223human GRCh38 chr2: 144,567,774-144,568,308 , GRCh37.p13 chr2: 145,325,341-145,325,875 LINC01412
    nsv6336676copy number variation1nstd223human GRCh38 chr2: 144,524,701-144,527,000 , GRCh37.p13 chr2: 145,282,268-145,284,567 LINC01412, LINC02993
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6313481copy number variation1nstd102humanPathogenic GRCh37 chr2: 143,258,712-152,867,819 , GRCh38.p12 chr2: 142,501,143-152,011,305 STIP1P1, RNU6-715P, 98 more genes
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
    nsv6290982copy number variation1nstd102humanPathogenic GRCh37 chr2: 142,409,401-152,680,804 , GRCh38.p12 chr2: 141,651,832-151,824,290 LOC101928526, MTCO2P5, 101 more genes
    nsv6243188mobile element insertion1nstd215human GRCh38 chr2: 144,560,966-144,560,966 , GRCh37.p13 chr2: 145,318,533-145,318,533 LINC01412
    nsv6167387copy number variation1nstd214human GRCh38 chr2: 144,535,910-144,535,975 , GRCh37.p13 chr2: 145,293,477-145,293,542 LINC01412
    nsv6165611copy number variation1nstd214human GRCh38 chr2: 144,535,909-144,535,977 , GRCh37.p13 chr2: 145,293,476-145,293,544 LINC01412
    nsv6161833copy number variation1nstd214human GRCh38 chr2: 144,535,905-144,535,976 , GRCh37.p13 chr2: 145,293,472-145,293,543 LINC01412
    nsv6152764copy number variation1nstd214human GRCh38 chr2: 144,535,909-144,535,976 , GRCh37.p13 chr2: 145,293,476-145,293,543 LINC01412
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