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Items: 1 to 20 of 244

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7048534inversion1nstd229human GRCh38 chr1: 169,612,775-169,612,852 , GRCh37.p13 chr1: 169,582,013-169,582,090 SELP
    nsv6644478copy number variation1nstd229human GRCh38 chr1: 169,605,901-169,612,500 , GRCh37.p13 chr1: 169,575,139-169,581,738 SELP
    nsv6644477copy number variation1nstd229human GRCh38 chr1: 169,578,657-169,844,806 , GRCh37.p13 chr1: 169,547,895-169,813,947 F5, SELE, 6 more genes
    nsv6644410copy number variation1nstd229human GRCh38 chr1: 169,609,434-169,611,944 , GRCh37.p13 chr1: 169,578,672-169,581,182 SELP
    nsv6644408copy number variation1nstd229human GRCh38 chr1: 169,605,401-169,612,600 , GRCh37.p13 chr1: 169,574,639-169,581,838 SELP
    nsv6644407copy number variation1nstd229human GRCh38 chr1: 169,605,001-169,612,500 , GRCh37.p13 chr1: 169,574,239-169,581,738 SELP
    nsv6644403copy number variation1nstd229human GRCh38 chr1: 169,521,501-169,639,600 , GRCh37.p13 chr1: 169,490,739-169,608,838 SELP, F5
    nsv6644302copy number variation1nstd229human GRCh38 chr1: 169,606,301-169,613,800 , GRCh37.p13 chr1: 169,575,539-169,583,038 SELP
    nsv6644256copy number variation1nstd229human GRCh38 chr1: 168,110,598-170,953,728 , GRCh37.p13 chr1: 168,079,836-170,922,869 SELL, RPL7AP21, 55 more genes
    nsv6644036copy number variation1nstd229human GRCh38 chr1: 169,606,526-169,612,571 , GRCh37.p13 chr1: 169,575,764-169,581,809 SELP
    nsv6625876copy number variation1nstd224human GRCh37 chr1: 169,565,346-169,580,892 , GRCh38.p12 chr1: 169,596,108-169,611,654 SELP
    nsv6625875copy number variation1nstd224human GRCh37 chr1: 169,547,458-170,642,899 , GRCh38.p12 chr1: 169,578,220-170,673,758 SELP, GORAB, 23 more genes
    nsv6333885copy number variation1nstd223human GRCh38 chr1: 169,606,526-169,612,568 , GRCh37.p13 chr1: 169,575,764-169,581,806 SELP
    nsv6324752copy number variation1nstd223human GRCh38 chr1: 169,615,468-169,615,955 , GRCh37.p13 chr1: 169,584,706-169,585,193 SELP
    nsv6323590copy number variation1nstd223human GRCh38 chr1: 169,609,434-169,611,942 , GRCh37.p13 chr1: 169,578,672-169,581,180 SELP
    nsv6313719copy number variation1nstd102humanPathogenic GRCh37 chr1: 162,330,810-171,532,331 , GRCh38.p12 chr1: 162,361,020-171,563,192 LOC100420658, LOC105371610, 167 more genes
    nsv6313602copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,391,422-171,843,613 , GRCh38.p12 chr1: 167,422,185-171,874,473 DCAF6, SELE, 101 more genes
    nsv6245582mobile element insertion1nstd215human GRCh38 chr1: 169,590,701-169,590,701 , GRCh37.p13 chr1: 169,559,939-169,559,939 SELP
    nsv6156295copy number variation1nstd214human GRCh38 chr1: 169,620,914-169,621,059 , GRCh37.p13 chr1: 169,590,152-169,590,297 SELP
    nsv6155470copy number variation1nstd214human GRCh38 chr1: 169,620,741-169,620,892 , GRCh37.p13 chr1: 169,589,979-169,590,130 SELP
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