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Items: 1 to 20 of 240

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098931copy number variation1nstd102humanPathogenic GRCh38 chr22: 16,804,110-18,162,024 , GRCh37.p13 chr22: 17,285,000-18,644,791 SLC25A18, LINC01634, 44 more genes
    nsv7095928copy number variation2nstd102humanPathogenic GRCh37 chr22: 17,565,982-20,052,185 , GRCh38.p12 chr22: 17,085,092-20,064,662 CA15P1, BID, 103 more genes
    nsv7095815copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,565,982-18,613,903 , GRCh38.p12 chr22: 17,085,092-18,131,136 HDHD5, LINC01664, 30 more genes
    nsv7072683inversion1nstd229human GRCh38 chr22: 18,120,758-18,123,291 , GRCh37.p13 chr22: 18,603,525-18,606,058 TUBA8
    nsv7036372copy number variation1nstd229human GRCh38 chr22: 18,101,901-18,109,100 , GRCh37.p13 chr22: 18,584,667-18,591,866 TUBA8, PEX26, 1 more genes
    nsv7025597copy number variation1nstd229human GRCh38 chr22: 18,103,008-18,109,176 , GRCh37.p13 chr22: 18,585,774-18,591,942 ARL2BPP10, TUBA8, 1 more genes
    nsv7023820copy number variation1nstd229human GRCh38 chr22: 18,116,194-18,126,912 , GRCh37.p13 chr22: 18,598,961-18,609,679 TUBA8
    nsv7022606copy number variation1nstd229human GRCh38 chr22: 18,112,301-18,117,000 , GRCh37.p13 chr22: 18,595,067-18,599,767 TUBA8
    nsv6637923copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,900-18,916,828 , GRCh38.p12 chr22: 16,408,174-18,929,315 ANKRD62P1, IGKV1OR22-1, 87 more genes
    nsv6637764copy number variation1nstd102humanUncertain significance GRCh37 chr22: 18,560,247-18,916,828 , GRCh38.p12 chr22: 18,077,481-18,929,315 LOC101060852, FAM230J, 30 more genes
    nsv6637447copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,570,796-19,695,101 , GRCh38.p12 chr22: 17,089,906-19,707,578 FAM230J, RN7SL168P, 88 more genes
    nsv6637374copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,900-18,649,190 , GRCh38.p12 chr22: 16,408,174-18,166,423 KCNMB3P1, CECR7, 59 more genes
    nsv6598668inversion1nstd223human GRCh38 chr22: 18,120,757-18,123,291 , GRCh37.p13 chr22: 18,603,524-18,606,058 TUBA8
    nsv6553367copy number variation1nstd223human GRCh38 chr22: 18,103,030-18,109,174 , GRCh37.p13 chr22: 18,585,796-18,591,940 PEX26, ARL2BPP10, 1 more genes
    nsv6550953copy number variation1nstd223human GRCh38 chr22: 18,127,571-18,127,875 , GRCh37.p13 chr22: 18,610,338-18,610,642 TUBA8
    nsv6315558copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-21,915,509 , GRCh38.p12 chr22: 16,408,173-21,561,220 LINC01665, RN7SKP221, 209 more genes
    nsv6314752copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-18,644,241 , GRCh38.p12 chr22: 16,408,173-18,161,474 VN1R9P, LOC107985573, 59 more genes
    nsv6311174copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,561,143-18,613,903 , GRCh38.p12 chr22: 18,078,377-18,131,136 TUBA8, PEX26, 1 more genes
    nsv6291521copy number variation1nstd102humanUncertain significance GRCh37 chr22: 18,505,502-19,024,659 , GRCh38.p12 chr22: 18,022,736-19,037,146 TUBA8, PI4KAP1, 36 more genes
    nsv6290000copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,850,000-18,885,000 , GRCh38.p12 chr22: 16,369,338-18,897,487 VN1R9P, TUBA8, 86 more genes
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