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Items: 1 to 20 of 444

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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
    nsv7096316copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,297,486-51,066,207 , GRCh38.p12 chr22: 49,903,838-50,627,779 RN7SL500P, DENND6B, 39 more genes
    nsv7074055inversion1nstd229human GRCh38 chr22: 50,153,100-50,445,127 , GRCh37.p13 chr22: 50,591,529-50,883,556 MOV10L1, PPP6R2, 14 more genes
    nsv7072051inversion1nstd229human GRCh38 chr22: 50,113,931-50,539,094 , GRCh37.p13 chr22: 50,552,360-50,977,523 NCAPH2, PPP6R2, 21 more genes
    nsv7060605inversion1nstd229human GRCh38 chr22: 50,266,816-50,266,847 , GRCh37.p13 chr22: 50,705,245-50,705,276 MAPK11
    nsv7059794inversion1nstd229human GRCh38 chr22: 50,156,227-50,492,045 , GRCh37.p13 chr22: 50,594,656-50,930,474 ADM2, PLXNB2, 16 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
    nsv7032761copy number variation1nstd229human GRCh38 chr22: 50,193,309-50,287,205 , GRCh37.p13 chr22: 50,631,738-50,725,634 MAPK12, TUBGCP6, 6 more genes
    nsv7029202copy number variation1nstd229human GRCh38 chr22: 50,170,801-50,312,400 , GRCh37.p13 chr22: 50,609,230-50,750,829 MAPK12, TUBGCP6, 8 more genes
    nsv7024388copy number variation1nstd229human GRCh38 chr22: 50,265,353-50,265,493 , GRCh37.p13 chr22: 50,703,782-50,703,922 MAPK11
    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
    nsv6638067copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,636,593-50,736,663 , GRCh38.p12 chr22: 50,198,164-50,298,234 PLXNB2, SELENOO, 6 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
    nsv6627227copy number variation1nstd224human GRCh37 chr22: 50,694,529-50,754,512 , GRCh38.p12 chr22: 50,256,100-50,316,083 PLXNB2, LOC105373096, 3 more genes
    nsv6535590copy number variation1nstd223human GRCh38 chr22: 48,991,693-50,757,224 , GRCh37.p13 chr22: 49,387,505-51,195,652 CHKB-CPT1B, LOC105373096, 57 more genes
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