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Items: 1 to 20 of 355

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7140197copy number variation1nstd232human GRCh37.p13 chr22: 17,665,782-17,665,837 , GRCh38.p12 chr22: 17,184,892-17,184,947 ADA2
    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
    nsv7096337copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,662,373-17,672,720 , GRCh38.p12 chr22: 17,181,483-17,191,830 ADA2, RPL32P5
    nsv7095929copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,669,209-17,672,720 , GRCh38.p12 chr22: 17,188,319-17,191,830 ADA2, RPL32P5
    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
    nsv7093390copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,669,229-17,669,337 , GRCh38.p12 chr22: 17,188,339-17,188,447 ADA2
    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
    nsv6637694copy number variation1nstd102humanUncertain significance GRCh37 chr22: 16,888,900-17,948,922 , GRCh38.p12 chr22: 16,408,174-17,469,880 HDHD5, LINC01665, 41 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
    nsv6637415copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,034,543-17,948,922 , GRCh38.p12 chr22: 16,553,653-17,469,880 IGKV2OR22-4, RPL31P62, 37 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
    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
    nsv6311310copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr22: 17,684,433-17,690,567 , GRCh38.p12 chr22: 17,203,543-17,209,677 ADA2
    nsv6311173copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,662,373-17,690,567 , GRCh38.p12 chr22: 17,181,483-17,209,677 RPL32P5, LOC107985573, 1 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
    nsv6251966mobile element insertion1nstd215human GRCh38 chr22: 17,188,869-17,188,869 , GRCh37.p13 chr22: 17,669,759-17,669,759 ADA2
    nsv6227012copy number variation1nstd214human GRCh38 chr22: 17,184,892-17,184,947 , GRCh37.p13 chr22: 17,665,782-17,665,837 ADA2
    nsv6134205copy number variation1nstd213human GRCh37 chr22: 17,290,000-17,690,001 , GRCh38.p12 chr22: 16,809,110-17,209,111 IGKV1OR22-1, RPL32P5, 20 more genes
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