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Items: 1 to 20 of 464

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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
    nsv7145862copy number variation1nstd232human GRCh37.p13 chr22: 50,905,877-50,905,959 , GRCh38.p12 chr22: 50,467,448-50,467,530 SBF1
    nsv7144774copy number variation1nstd232human GRCh37.p13 chr22: 50,902,870-50,902,961 , GRCh38.p12 chr22: 50,464,441-50,464,532 SBF1
    nsv7144506copy number variation1nstd232human GRCh37.p13 chr22: 50,903,166-50,903,245 , GRCh38.p12 chr22: 50,464,737-50,464,816 SBF1
    nsv7141537copy number variation1nstd232human GRCh37.p13 chr22: 50,893,569-50,893,649 , GRCh38.p12 chr22: 50,455,140-50,455,220 SBF1
    nsv7140703copy number variation1nstd232human GRCh37.p13 chr22: 50,894,823-50,894,918 , GRCh38.p12 chr22: 50,456,394-50,456,489 SBF1
    nsv7139431copy number variation1nstd232human GRCh37.p13 chr22: 50,893,169-50,893,239 , GRCh38.p12 chr22: 50,454,740-50,454,810 SBF1
    nsv7137343copy number variation1nstd232human GRCh37.p13 chr22: 50,903,557-50,903,641 , GRCh38.p12 chr22: 50,465,128-50,465,212 SBF1
    nsv7096320copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,900,968-50,913,269 , GRCh38.p12 chr22: 50,462,539-50,474,840 SBF1
    nsv7096319copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,885,571-50,913,269 , GRCh38.p12 chr22: 50,447,142-50,474,840 SBF1
    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
    nsv7096190copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,885,571-50,897,841 , GRCh38.p12 chr22: 50,447,142-50,459,412 SBF1
    nsv7095845copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,904,559-50,913,269 , GRCh38.p12 chr22: 50,466,130-50,474,840 SBF1
    nsv7095844copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,904,370-50,968,138 , GRCh38.p12 chr22: 50,465,941-50,529,709 MIOX, NCAPH2, 6 more genes
    nsv7095843copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,885,571-50,900,167 , GRCh38.p12 chr22: 50,447,142-50,461,738 SBF1
    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
    nsv7059794inversion1nstd229human GRCh38 chr22: 50,156,227-50,492,045 , GRCh37.p13 chr22: 50,594,656-50,930,474 ADM2, PLXNB2, 16 more genes
    nsv7035934copy number variation1nstd229human GRCh38 chr22: 50,316,944-50,553,636 , GRCh37.p13 chr22: 50,755,373-50,992,065 SCO2, CIMAP1B, 15 more genes
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