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Items: 1 to 20 of 211

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5956143insertion1nstd209human GRCh38 chr2: 202,206,056-202,206,056 , GRCh37.p13 chr2: 203,070,779-203,070,779 SUMO1
    nsv5891660copy number variation1nstd209human GRCh38 chr2: 202,211,410-202,211,600 , GRCh37.p13 chr2: 203,076,133-203,076,323 SUMO1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5445758copy number variation1nstd206human GRCh38 chr2: 202,228,514-202,228,717 , GRCh37.p13 chr2: 203,093,237-203,093,440 SUMO1
    nsv5442623copy number variation1nstd206human GRCh38 chr2: 202,234,810-202,234,881 , GRCh37.p13 chr2: 203,099,533-203,099,604 SUMO1
    nsv5313237copy number variation1nstd204human GRCh38.p13 chr2: 202,213,001-202,213,851 , GRCh37.p13 chr2: 203,077,724-203,078,574 SUMO1
    nsv5071406mobile element insertion1nstd203human GRCh38 chr2: 202,206,056-202,206,080 , GRCh37.p13 chr2: 203,070,779-203,070,803 SUMO1
    nsv4913831copy number variation1nstd200human GRCh38 chr2: 202,225,295-202,226,920 , GRCh37.p13 chr2: 203,090,018-203,091,643 SUMO1
    nsv4795555copy number variation1nstd200human GRCh37 chr2: 203,093,237-203,093,440 , GRCh38.p12 chr2: 202,228,514-202,228,717 SUMO1
    nsv4795554copy number variation1nstd200human GRCh37 chr2: 203,077,732-203,078,567 , GRCh38.p12 chr2: 202,213,009-202,213,844 SUMO1
    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
    nsv4674491copy number variation1nstd102humanPathogenic GRCh37 chr2: 202,772,963-205,218,660 , GRCh38.p12 chr2: 201,908,240-204,353,937 LOC100287425, WDR12, 55 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
    nsv4674188copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 202,999,402-203,485,750 , GRCh38.p12 chr2: 202,134,679-202,621,027 BMPR2, SUMO1, 22 more genes
    nsv4595275copy number variation1nstd183human GRCh37 chr2: 203,078,859-203,084,584 , GRCh38.p12 chr2: 202,214,136-202,219,861 SUMO1
    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
    nsv4082823copy number variation1nstd166human GRCh37.p13 chr2: 203,093,237-203,093,440 , GRCh38.p12 chr2: 202,228,514-202,228,717 SUMO1
    nsv4073859copy number variation1nstd166human GRCh37.p13 chr2: 203,089,000-203,096,000 , GRCh38.p12 chr2: 202,224,277-202,231,277 RPL39P14, SUMO1
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