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Items: 1 to 20 of 185

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5906384copy number variation1nstd209human GRCh38 chr2: 184,378,995-184,379,160 , GRCh37.p13 chr2: 185,243,722-185,243,887 MIR548AE1, LOC102724340, 2 more genes
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5451910copy number variation1nstd206human GRCh38 chr2: 184,349,602-184,481,241 , GRCh37.p13 chr2: 185,214,329-185,345,968 MIR548AE1, LOC102724340, 3 more genes
    nsv5451325copy number variation1nstd206human GRCh38 chr2: 183,929,803-185,697,639 , GRCh37.p13 chr2: 184,794,530-186,562,366 , LOC105373776, 12 more genes
    nsv5447989copy number variation1nstd206human GRCh38 chr2: 184,378,996-184,379,161 , GRCh37.p13 chr2: 185,243,723-185,243,888 LOC102724340, LOC105373776, 2 more genes
    nsv5287852copy number variation1nstd204human GRCh38.p13 chr2: 182,396,620-186,452,557 , GRCh37.p13 chr2: 183,261,347-187,317,284 , LINC01473, 36 more genes
    nsv5203383copy number variation1nstd204human GRCh38.p13 chr2: 183,941,201-186,452,500 , GRCh37.p13 chr2: 184,805,928-187,317,227 , RPL21P32, 23 more genes
    nsv5079428mobile element insertion1nstd203human GRCh38 chr2: 184,377,232-184,377,244 , GRCh37.p13 chr2: 185,241,959-185,241,971 MIR548AE1, LOC102724340, 1 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4928964copy number variation1nstd200human GRCh38 chr2: 183,842,313-184,389,604 , GRCh37.p13 chr2: 184,707,040-185,254,331 , LOC105373777, 4 more genes
    nsv4928960copy number variation1nstd200human GRCh38 chr2: 183,274,674-186,048,525 , GRCh37.p13 chr2: 184,139,402-186,913,252 , LOC107985832, 21 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4804454copy number variation1nstd200human GRCh37 chr2: 183,261,357-187,317,275 , GRCh38.p12 chr2: 182,396,630-186,452,548 , LOC107985832, 36 more genes
    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
    nsv4685593copy number variation1nstd102humannot provided GRCh37 chr2: 183,764,930-187,399,282 , GRCh38.p12 chr2: 182,900,202-186,534,555 ZC3H15, ZNF804A, 29 more genes
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 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
    nsv4582643copy number variation1nstd183human GRCh37 chr2: 184,956,826-185,317,733 , GRCh38.p12 chr2: 184,092,099-184,453,006 MIR548AE1, LOC107985968, 3 more genes
    nsv4582642copy number variation1nstd183human GRCh37 chr2: 184,956,126-185,320,059 , GRCh38.p12 chr2: 184,091,399-184,455,332 MIR548AE1, LOC107985968, 3 more genes
    nsv4543980insertion1nstd166human GRCh37.p13 chr2: 185,241,957-185,241,957 , GRCh38.p12 chr2: 184,377,230-184,377,230 MIR548AE1, LOC102724340, 1 more genes
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