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Items: 1 to 20 of 160

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5606594insertion1nstd207human GRCh38 chr2: 200,869,962-200,869,962 , GRCh37.p13 chr2: 201,734,685-201,734,685 PPIL3
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5308576copy number variation1nstd204human GRCh38.p13 chr2: 200,873,733-200,875,603 , GRCh37.p13 chr2: 201,738,456-201,740,326 PPIL3
    nsv5201546copy number variation1nstd204human GRCh38.p13 chr2: 200,873,843-200,875,687 , GRCh37.p13 chr2: 201,738,566-201,740,410 PPIL3
    nsv5079591mobile element insertion1nstd203human GRCh38 chr2: 200,887,145-200,887,150 , GRCh37.p13 chr2: 201,751,868-201,751,873 PPIL3
    nsv5061639mobile element insertion1nstd203human GRCh38 chr2: 200,887,148-200,887,150 , GRCh37.p13 chr2: 201,751,871-201,751,873 PPIL3
    nsv4913820copy number variation1nstd200human GRCh38 chr2: 200,867,724-200,870,336 , GRCh37.p13 chr2: 201,732,447-201,735,059 PPIL3
    nsv4910313copy number variation1nstd200human GRCh38 chr2: 200,873,713-200,875,509 , GRCh37.p13 chr2: 201,738,436-201,740,232 PPIL3
    nsv4804543copy number variation1nstd200human GRCh37 chr2: 201,732,447-201,735,054 , GRCh38.p12 chr2: 200,867,724-200,870,331 PPIL3
    nsv4795524copy number variation1nstd200human GRCh37 chr2: 201,738,464-201,740,318 , GRCh38.p12 chr2: 200,873,741-200,875,595 PPIL3
    nsv4795523copy number variation1nstd200human GRCh37 chr2: 201,734,685-201,735,303 , GRCh38.p12 chr2: 200,869,962-200,870,580 PPIL3
    nsv4739982copy number variation1nstd199human GRCh37 chr2: 201,734,872-201,735,006 , GRCh38.p12 chr2: 200,870,149-200,870,283 PPIL3
    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
    nsv4674597copy number variation1nstd102humanPathogenic GRCh37 chr2: 201,106,432-204,901,548 , GRCh38.p12 chr2: 200,241,709-204,036,825 KIAA2012-AS1, SNORD11, 113 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4651136copy number variation1nstd186human GRCh37 chr2: 201,734,685-201,734,741 , GRCh38.p12 chr2: 200,869,962-200,870,018 PPIL3
    nsv4519912copy number variation1nstd166human GRCh37.p13 chr2: 201,734,685-201,734,741 , GRCh38.p12 chr2: 200,869,962-200,870,018 PPIL3
    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
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
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