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Items: 1 to 20 of 525

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7036841copy number variation1nstd229human GRCh38 chr22: 21,584,710-21,590,477 , GRCh37.p13 chr22: 21,938,999-21,944,766 UBE2L3
    nsv7028108copy number variation1nstd229human GRCh38 chr22: 21,613,380-21,632,679 , GRCh37.p13 chr22: 21,967,669-21,986,968 CCDC116, UBE2L3, 1 more genes
    nsv7027377copy number variation1nstd229human GRCh38 chr22: 21,613,300-21,616,118 , GRCh37.p13 chr22: 21,967,589-21,970,407 UBE2L3
    nsv7025796copy number variation1nstd229human GRCh38 chr22: 21,564,159-21,565,029 , GRCh37.p13 chr22: 21,918,448-21,919,318 UBE2L3
    nsv7024165copy number variation1nstd229human GRCh38 chr22: 21,584,009-21,586,400 , GRCh37.p13 chr22: 21,938,298-21,940,689 UBE2L3
    nsv7023617copy number variation1nstd229human GRCh38 chr22: 21,573,771-21,581,438 , GRCh37.p13 chr22: 21,928,060-21,935,727 UBE2L3
    nsv7018814copy number variation1nstd229human GRCh38 chr22: 21,595,282-21,606,745 , GRCh37.p13 chr22: 21,949,571-21,961,034 UBE2L3
    nsv6637518copy number variation1nstd102humanPathogenic GRCh37 chr22: 21,029,656-22,485,776 , GRCh38.p12 chr22: 20,675,368-22,131,383 ABHD17AP5, MIR301B, 70 more genes
    nsv6637335copy number variation1nstd102humanPathogenic GRCh37 chr22: 21,465,662-22,962,962 , GRCh38.p12 chr22: 21,111,373-22,620,492 ABHD17AP5, UBE2L3, 97 more genes
    nsv6637163copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,916,843-21,915,509 , GRCh38.p12 chr22: 18,339,130-21,561,220 THAP7, DVL1P1, 144 more genes
    nsv6634411copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,639,780-21,910,280 , GRCh38.p12 chr22: 18,157,013-21,555,991 RIMBP3C, LOC107985588, 149 more genes
    nsv6627184copy number variation1nstd224human GRCh37 chr22: 21,799,719-23,803,722 , GRCh38.p12 chr22: 21,445,430-23,461,535 BCRP4, GNAZ, 158 more genes
    nsv6598009inversion1nstd223human GRCh38 chr22: 19,919,250-21,627,748 , GRCh37.p13 chr22: 19,906,773-21,982,037 CRKL, SNAP29, 83 more genes
    nsv6597207inversion1nstd223human GRCh38 chr22: 21,575,246-21,575,798 , GRCh37.p13 chr22: 21,929,535-21,930,087 UBE2L3
    nsv6554722copy number variation1nstd223human GRCh38 chr22: 21,584,008-21,586,359 , GRCh37.p13 chr22: 21,938,297-21,940,648 UBE2L3
    nsv6554706copy number variation1nstd223human GRCh38 chr22: 21,595,241-21,595,563 , GRCh37.p13 chr22: 21,949,530-21,949,852 UBE2L3
    nsv6553605copy number variation1nstd223human GRCh38 chr22: 21,549,401-21,569,200 , GRCh37.p13 chr22: 21,903,690-21,923,489 UBE2L3, RIMBP3C
    nsv6550229copy number variation1nstd223human GRCh38 chr22: 21,598,775-21,609,001 , GRCh37.p13 chr22: 21,953,064-21,963,290 UBE2L3
    nsv6548569copy number variation1nstd223human GRCh38 chr22: 21,601,895-21,603,763 , GRCh37.p13 chr22: 21,956,184-21,958,052 UBE2L3
    nsv6546763copy number variation1nstd223human GRCh38 chr22: 21,576,598-21,579,249 , GRCh37.p13 chr22: 21,930,887-21,933,538 UBE2L3
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