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Items: 1 to 20 of 528

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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
    nsv7144741copy number variation1nstd232human GRCh37.p13 chr22: 50,250,291-50,250,378 , GRCh38.p12 chr22: 49,856,643-49,856,730 ZBED4
    nsv7073271inversion1nstd229human GRCh38 chr22: 49,372,994-49,993,828 , GRCh37.p13 chr22: 49,768,897-50,432,257 IL17REL, LOC105373091, 12 more genes
    nsv7066393inversion1nstd229human GRCh38 chr22: 49,880,900-49,882,471 , GRCh37.p13 chr22: 50,274,548-50,276,119 ALG12, ZBED4
    nsv7060307inversion1nstd229human GRCh38 chr22: 49,621,529-49,888,455 , GRCh37.p13 chr22: 50,015,177-50,282,103 BRD1, ALG12, 7 more genes
    nsv7036248copy number variation1nstd229human GRCh38 chr22: 49,879,045-49,890,943 , GRCh37.p13 chr22: 50,272,693-50,284,591 ZBED4, ALG12
    nsv7033947copy number variation1nstd229human GRCh38 chr22: 49,874,942-49,880,435 , GRCh37.p13 chr22: 50,268,590-50,274,083 ZBED4, ALG12
    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
    nsv7033075copy number variation1nstd229human GRCh38 chr22: 49,877,724-50,553,749 , GRCh37.p13 chr22: 50,271,372-50,992,178 SELENOO-AS1, MOV10L1, 33 more genes
    nsv7028347copy number variation1nstd229human GRCh38 chr22: 49,857,204-49,861,735 , GRCh37.p13 chr22: 50,250,852-50,255,383 ALG12, ZBED4
    nsv7027620copy number variation1nstd229human GRCh38 chr22: 49,860,841-49,865,073 , GRCh37.p13 chr22: 50,254,489-50,258,721 ZBED4, ALG12
    nsv7022698copy number variation1nstd229human GRCh38 chr22: 49,878,277-49,878,352 , GRCh37.p13 chr22: 50,271,925-50,272,000 ALG12, ZBED4
    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
    nsv6598084inversion1nstd223human GRCh38 chr22: 49,871,162-49,871,481 , GRCh37.p13 chr22: 50,264,810-50,265,129 ALG12, ZBED4
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