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Items: 1 to 20 of 411

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112685copy number variation1nstd102humannot provided GRCh37 chr1: 2,420,003-8,155,935 , GRCh38.p12 chr1: 2,488,564-8,095,875 LINC02780, C1orf174, 100 more genes
    nsv5323481inversion1nstd204human GRCh37.p13 chr1: 3,438,482-4,249,593 , GRCh38.p13 chr1: 3,521,918-4,189,533 , CCDC27, 21 more genes
    nsv5208109copy number variation1nstd204human GRCh38.p13 chr1: 3,475,301-3,587,900 , GRCh37.p13 chr1: 3,391,865-3,504,464 MEGF6, MIR551A, 2 more genes
    nsv5205538copy number variation1nstd204human GRCh37.p13 chr1: 3,216,865-3,500,464 , GRCh38.p13 chr1: 3,300,301-3,583,900 MEGF6, ARHGEF16, 4 more genes
    nsv5030662inversion1nstd200human GRCh38 chr1: 3,521,920-4,189,533 , GRCh37.p13 chr1: 3,438,484-4,249,593 , TP73-AS3, 21 more genes
    nsv4894276copy number variation1nstd200human GRCh38 chr1: 2,989,984-4,291,637 , GRCh37.p13 chr1: 2,906,548-4,351,697 , LINC02780, 31 more genes
    nsv4873243inversion1nstd200human GRCh37 chr1: 3,438,484-4,249,593 , GRCh38.p12 chr1: 3,521,920-4,189,533 , LINC01346, 21 more genes
    nsv4728461copy number variation1nstd102humanUncertain significance GRCh37 chr1: 3,202,162-4,143,527 , GRCh38.p12 chr1: 3,285,598-4,083,467 LOC105378608, WRAP73, 20 more genes
    nsv4728187copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-5,592,835 , GRCh38.p12 chr1: 10,001-5,532,775 UBE2J2, MRPL20, 196 more genes
    nsv4685972copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 762,080-7,309,686 , GRCh38.p12 chr1: 826,700-7,249,626 CDK11B, DFFB, 184 more genes
    nsv4685575copy number variation1nstd102humanPathogenic GRCh37 chr1: 1,670,720-3,816,863 , GRCh38.p12 chr1: 1,739,281-3,900,299 LOC105378593, LOC105378590, 65 more genes
    nsv4674611copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-4,829,059 , GRCh38.p12 chr1: 914,086-4,768,999 LOC100129534, MMP23B, 141 more genes
    nsv4674407copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-7,786,545 , GRCh38.p12 chr1: 914,086-7,726,485 MMP23B, RNF223, 183 more genes
    nsv4674384copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,466-5,625,566 , GRCh38.p12 chr1: 914,086-5,565,506 RN7SL574P, LOC112268219, 147 more genes
    nsv4674348copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-6,002,955 , GRCh38.p12 chr1: 914,086-5,942,895 LOC105378602, TAS1R3, 149 more genes
    nsv4581178copy number variation1nstd183human GRCh37 chr1: 3,394,250-4,807,521 , GRCh38.p12 chr1: 3,477,686-4,747,461 , LRRC47, 27 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436631copy number variation1nstd102humanPathogenic GRCh37 chr1: 554,375-9,779,842 , GRCh38.p12 chr1: 618,995-9,719,784 LINC02606, SCNN1D, 253 more genes
    nsv4436526complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-16,409,637 , GRCh37 chr1: 909,238-16,736,132 RERE, CA6, 415 more genes
    nsv4436105copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-11,784,118 , GRCh38.p12 chr1: 82,154-11,724,061 PARK7, RNF223, 325 more genes
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