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Items: 1 to 20 of 161

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5881139copy number variation1nstd209human GRCh38 chr1: 207,079,415-207,079,716 , GRCh37.p13 chr1: 207,252,760-207,253,061 PFKFB2
    nsv5534645insertion1nstd206human GRCh38 chr1: 207,065,224-207,065,226 , GRCh37.p13 chr1: 207,238,569-207,238,571 PFKFB2
    nsv5448157copy number variation1nstd206human GRCh38 chr1: 207,063,939-207,065,244 , GRCh37.p13 chr1: 207,237,284-207,238,589 PFKFB2
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5354564translocation1nstd200human GRCh38 chr1: 207,079,415-207,079,415 , GRCh38 chr1: 207,079,723-207,079,723 , GRCh37.p13 chr1: 207,252,760-207,252,760 , GRCh37.p13 chr1: 207,253,068-207,253,068 PFKFB2
    nsv5075451mobile element insertion1nstd203human GRCh38 chr1: 207,074,760-207,074,760 , GRCh37.p13 chr1: 207,248,105-207,248,105 PFKFB2
    nsv5064172mobile element insertion1nstd203human GRCh38 chr1: 207,075,864-207,075,879 , GRCh37.p13 chr1: 207,249,209-207,249,224 PFKFB2
    nsv4898382copy number variation1nstd200human GRCh38 chr1: 207,053,591-207,054,186 , GRCh37.p13 chr1: 207,226,936-207,227,531 PFKFB2
    nsv4774144copy number variation1nstd200human GRCh37 chr1: 207,252,760-207,253,068 , GRCh38.p12 chr1: 207,079,415-207,079,723 PFKFB2
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4594253copy number variation1nstd183human GRCh37 chr1: 207,254,109-207,254,547 , GRCh38.p12 chr1: 207,080,764-207,081,202 PFKFB2
    nsv4580265copy number variation1nstd183human GRCh37 chr1: 207,221,798-207,226,721 , GRCh38.p12 chr1: 207,048,453-207,053,376 PFKFB2, YOD1
    nsv4562881mobile element insertion1nstd166human GRCh37.p13 chr1: 207,249,615-207,249,615 , GRCh38.p12 chr1: 207,076,270-207,076,270 PFKFB2
    nsv4452160copy number variation1nstd102humanUncertain significance GRCh37 chr1: 206,329,070-213,263,817 , GRCh38.p12 chr1: 206,308,879-213,090,475 CDCA4P4, LOC105372889, 146 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4063272copy number variation1nstd166human GRCh37.p13 chr1: 207,230,328-207,230,711 , GRCh38.p12 chr1: 207,056,983-207,057,366 PFKFB2
    nsv4060175copy number variation1nstd166human GRCh37.p13 chr1: 207,252,760-207,253,068 , GRCh38.p12 chr1: 207,079,415-207,079,723 PFKFB2
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