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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148281copy number variation1nstd102humanPathogenic GRCh38 chr22: 49,757,859-50,740,457 , GRCh37.p13 chr22: 50,151,507-51,178,885 CHKB-CPT1B, ADM2, 49 more genes
    nsv7148150copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,014,114-51,244,066 , GRCh38.p12 chr22: 49,620,466-50,805,638 MAPK11, KLHDC7B-DT, 54 more genes
    nsv7147423copy number variation1nstd232human GRCh37.p13 chr22: 50,229,316-50,229,364 , GRCh38.p12 chr22: 49,835,668-49,835,716 LOC105377205
    nsv7073271inversion1nstd229human GRCh38 chr22: 49,372,994-49,993,828 , GRCh37.p13 chr22: 49,768,897-50,432,257 IL17REL, LOC105373091, 12 more genes
    nsv7060307inversion1nstd229human GRCh38 chr22: 49,621,529-49,888,455 , GRCh37.p13 chr22: 50,015,177-50,282,103 BRD1, ALG12, 7 more genes
    nsv7033951copy number variation1nstd229human GRCh38 chr22: 49,833,339-49,836,713 , GRCh37.p13 chr22: 50,226,987-50,230,361 LOC105377205
    nsv7033484copy number variation1nstd229human GRCh38 chr22: 49,848,901-49,852,700 , GRCh37.p13 chr22: 50,242,549-50,246,348 ZBED4, LOC105373091, 1 more genes
    nsv7027179copy number variation1nstd229human GRCh38 chr22: 49,838,929-49,843,375 , GRCh37.p13 chr22: 50,232,577-50,237,023 LOC105377205
    nsv7026868copy number variation1nstd229human GRCh38 chr22: 49,831,001-49,834,600 , GRCh37.p13 chr22: 50,224,649-50,228,248 LOC105377205
    nsv7024644copy number variation1nstd229human GRCh38 chr22: 49,834,475-49,847,286 , GRCh37.p13 chr22: 50,228,123-50,240,934 LOC105377205
    nsv6638073copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,436,847-51,188,164 , GRCh38.p12 chr22: 43,040,841-50,749,736 SCUBE1-AS1, MIR6821, 165 more genes
    nsv6637969copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,178,749-51,183,840 , GRCh38.p12 chr22: 43,782,869-50,745,412 LOC105373081, RPL35AP36, 148 more genes
    nsv6637767copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,390,702-51,137,629 , GRCh38.p12 chr22: 43,994,822-50,699,201 RN7SKP252, CDPF1, 139 more genes
    nsv6637710copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,977,448-51,197,838 , GRCh38.p12 chr22: 45,581,568-50,759,410 PKDREJ, MAPK11, 110 more genes
    nsv6637484copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,977,415-51,183,840 , GRCh38.p12 chr22: 45,581,535-50,745,412 MIR6821, LOC105373086, 108 more genes
    nsv6637355copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,889,148-51,197,838 , GRCh38.p12 chr22: 45,493,268-50,759,410 LOC105373068, SYCE3, 111 more genes
    nsv6595884inversion1nstd223human GRCh38 chr22: 49,841,052-49,841,261 , GRCh37.p13 chr22: 50,234,700-50,234,909 LOC105377205
    nsv6555462copy number variation1nstd223human GRCh38 chr22: 49,832,134-49,835,398 , GRCh37.p13 chr22: 50,225,782-50,229,046 LOC105377205
    nsv6554542copy number variation1nstd223human GRCh38 chr22: 49,833,339-49,836,713 , GRCh37.p13 chr22: 50,226,987-50,230,361 LOC105377205
    nsv6550732copy number variation1nstd223human GRCh38 chr22: 49,831,103-49,834,532 , GRCh37.p13 chr22: 50,224,751-50,228,180 LOC105377205
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