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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673694copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 217,285,012-217,315,797 , GRCh38.p12 chr2: 216,420,289-216,451,074 SMARCAL1
    nsv5673533copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 217,311,731-217,311,891 , GRCh38.p12 chr2: 216,447,008-216,447,168 SMARCAL1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5435596copy number variation1nstd206human GRCh38 chr2: 216,462,812-216,462,864 , GRCh37.p13 chr2: 217,327,535-217,327,587 SMARCAL1
    nsv5344248translocation1nstd200human GRCh37 chr2: 217,332,234-217,332,234 , GRCh37 chr2: 217,332,172-217,332,172 , GRCh38.p12 chr2: 216,467,449-216,467,449 , GRCh38.p12 chr2: 216,467,511-216,467,511 SMARCAL1
    nsv5303118copy number variation1nstd204human GRCh38.p13 chr2: 216,472,126-216,474,483 , GRCh37.p13 chr2: 217,336,849-217,339,206 SMARCAL1
    nsv5213894copy number variation1nstd204human GRCh38.p13 chr2: 216,405,901-216,412,300 , GRCh37.p13 chr2: 217,270,624-217,277,023 SMARCAL1-AS1, SMARCAL1
    nsv5202924copy number variation1nstd204human GRCh38.p13 chr2: 216,463,262-216,468,861 , GRCh37.p13 chr2: 217,327,985-217,333,584 SMARCAL1
    nsv5183406mobile element insertion1nstd203human GRCh38 chr2: 216,439,751-216,439,751 , GRCh37.p13 chr2: 217,304,474-217,304,474 SMARCAL1
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    nsv4916822copy number variation1nstd200human GRCh38 chr2: 216,473,989-216,474,143 , GRCh37.p13 chr2: 217,338,712-217,338,866 SMARCAL1
    nsv4916821copy number variation1nstd200human GRCh38 chr2: 216,472,134-216,474,476 , GRCh37.p13 chr2: 217,336,857-217,339,199 SMARCAL1
    nsv4795933copy number variation1nstd200human GRCh37 chr2: 217,338,712-217,338,866 , GRCh38.p12 chr2: 216,473,989-216,474,143 SMARCAL1
    nsv4795932copy number variation1nstd200human GRCh37 chr2: 217,336,857-217,339,199 , GRCh38.p12 chr2: 216,472,134-216,474,476 SMARCAL1
    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
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4674168copy number variation1nstd102humanUncertain significance GRCh37 chr2: 217,279,767-217,336,105 , GRCh38.p12 chr2: 216,415,044-216,471,382 SMARCAL1
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
    nsv4453505copy number variation1nstd102humanPathogenic GRCh38 chr2: 216,414,695-216,416,317 , GRCh37 chr2: 217,279,418-217,281,040 SMARCAL1
    nsv4449874copy number variation1nstd102humanUncertain significance GRCh37 chr2: 217,280,960-217,281,050 , GRCh38 chr2: 216,416,237-216,416,327 SMARCAL1
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