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Items: 1 to 20 of 116

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5966590copy number variation1nstd209human GRCh38 chr22: 32,382,487-32,382,544 , GRCh37.p13 chr22: 32,778,474-32,778,531 LOC339666
    nsv5716117mobile element insertion1nstd211human GRCh38 chr22: 32,383,121-32,383,121 , GRCh37.p13 chr22: 32,779,108-32,779,108 LOC339666
    nsv5599765copy number variation1nstd207human GRCh38 chr22: 32,382,482-32,382,537 , GRCh37.p13 chr22: 32,778,469-32,778,524 LOC339666
    nsv5561182mobile element insertion1nstd206human GRCh38 chr22: 32,383,136-32,383,172 , GRCh37.p13 chr22: 32,779,123-32,779,159 LOC339666
    nsv5039801copy number variation1nstd200human GRCh38 chr22: 32,371,288-32,379,616 , GRCh37.p13 chr22: 32,767,275-32,775,603 LOC339666, IGLCOR22-2, 1 more genes
    nsv5031176copy number variation1nstd200human GRCh38 chr22: 32,374,243-32,380,143 , GRCh37.p13 chr22: 32,770,230-32,776,130 LOC339666, IGLCOR22-2
    nsv5030847copy number variation1nstd200human GRCh38 chr22: 32,353,593-32,409,920 , GRCh37.p13 chr22: 32,749,580-32,805,907 RFPL3, LOC339666, 5 more genes
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4641810copy number variation1nstd186human GRCh37 chr22: 32,778,451-32,778,533 , GRCh38.p12 chr22: 32,382,464-32,382,546 LOC339666
    nsv4535760copy number variation1nstd166human GRCh37.p13 chr22: 32,778,451-32,778,533 , GRCh38.p12 chr22: 32,382,464-32,382,546 LOC339666
    nsv4532733copy number variation1nstd166human GRCh37.p13 chr22: 32,692,999-32,788,000 , GRCh38.p12 chr22: 32,297,012-32,392,013 SLC5A4, RFPL3S, 6 more genes
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4457457copy number variation1nstd102humanUncertain significance GRCh37 chr22: 32,748,700-32,845,239 , GRCh38.p12 chr22: 32,352,713-32,449,252 RFPL3S, BPIFC, 6 more genes
    nsv4457382copy number variation1nstd102humanUncertain significance GRCh37 chr22: 32,468,505-32,780,333 , GRCh38.p12 chr22: 32,072,518-32,384,346 CPSF1P1, SLC5A1, 12 more genes
    nsv4383389copy number variation1nstd173human GRCh37 chr22: 21,465,662-33,984,045 , GRCh38.p12 chr22: 21,111,373-33,588,059 , XBP1, 450 more genes
    nsv4291879copy number variation1nstd166human GRCh37.p13 chr22: 32,465,064-32,780,587 , GRCh38.p12 chr22: 32,069,077-32,384,600 SLC5A4, LOC105373000, 12 more genes
    nsv3922708copy number variation1nstd102humanPathogenic GRCh38 chr22: 23,279,231-36,247,369 , GRCh37 chr22: 23,621,418-36,643,415 , NCBI36 chr22: 21,951,418-34,973,361 DRICH1, MMP11, 316 more genes
    nsv3919881copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,397,633-51,178,213 , GRCh38 chr22: 16,916,743-50,739,785 , NCBI36 chr22: 15,777,633-49,525,079 MIR12114, MIR6820, 1059 more genes
    nsv3919085copy number variation1nstd102humanPathogenic NCBI36 chr22: 17,008,132-49,591,432 , GRCh37.p13 chr22: 18,628,132-51,244,566 , GRCh38.p12 chr22: 18,145,365-50,806,138 IGLV2-28, LINC01310, 1023 more genes
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