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Items: 1 to 20 of 155

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6919769copy number variation1nstd229human GRCh38 chr12: 48,668,501-48,670,300 , GRCh37.p13 chr12: 49,062,284-49,064,083 KANSL2
    nsv6593845inversion1nstd223human GRCh38 chr12: 48,664,216-48,666,311 , GRCh37.p13 chr12: 49,057,999-49,060,094 SNORA2B, KANSL2
    nsv6591845inversion1nstd223human GRCh38 chr12: 48,669,572-48,669,967 , GRCh37.p13 chr12: 49,063,355-49,063,750 KANSL2
    nsv6589023inversion1nstd223human GRCh38 chr12: 48,673,011-48,673,283 , GRCh37.p13 chr12: 49,066,794-49,067,066 KANSL2
    nsv6588868inversion1nstd223human GRCh38 chr12: 48,664,224-48,665,272 , GRCh37.p13 chr12: 49,058,007-49,059,055 KANSL2
    nsv6587092inversion1nstd223human GRCh38 chr12: 48,674,183-48,674,875 , GRCh37.p13 chr12: 49,067,966-49,068,658 KANSL2
    nsv6576671inversion1nstd223human GRCh38 chr12: 48,657,636-48,658,229 , GRCh37.p13 chr12: 49,051,419-49,052,012 KANSL2
    nsv6575956inversion1nstd223human GRCh38 chr12: 48,673,040-48,673,252 , GRCh37.p13 chr12: 49,066,823-49,067,035 KANSL2
    nsv6575935inversion1nstd223human GRCh38 chr12: 48,669,596-48,669,995 , GRCh37.p13 chr12: 49,063,379-49,063,778 KANSL2
    nsv6459308copy number variation1nstd223human GRCh38 chr12: 48,664,140-48,667,181 , GRCh37.p13 chr12: 49,057,923-49,060,964 SNORA2B, KANSL2
    nsv6458765copy number variation1nstd223human GRCh38 chr12: 48,633,901-48,753,100 , GRCh37.p13 chr12: 49,027,684-49,146,883 SNORA2A, KANSL2, 5 more genes
    nsv6457332copy number variation1nstd223human GRCh38 chr12: 48,663,801-48,736,000 , GRCh37.p13 chr12: 49,057,584-49,129,783 KANSL2, SPMIP11, 2 more genes
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132248copy number variation1nstd213human GRCh37 chr12: 45,960,000-49,240,001 , GRCh38.p12 chr12: 45,566,217-48,846,218 LALBA, VDR, 83 more genes
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5510194copy number variation1nstd206human GRCh38 chr12: 48,652,519-48,652,575 , GRCh37.p13 chr12: 49,046,302-49,046,358 SNORA2C, MIR1291, 1 more genes
    nsv5500616copy number variation1nstd206human GRCh38 chr12: 48,672,380-48,672,490 , GRCh37.p13 chr12: 49,066,163-49,066,273 KANSL2
    nsv5367032translocation1nstd200human GRCh38 chr12: 48,654,958-48,654,958 , GRCh38 chr3: 22,381,743-22,381,743 , GRCh37.p13 chr12: 49,048,741-49,048,741 , GRCh37.p13 chr3: 22,423,234-22,423,234 HMGB1P5, KANSL2, 3 more genes
    nsv5340333translocation1nstd200human GRCh37 chr5: 81,276,684-81,276,684 , GRCh37 chr12: 49,072,254-49,072,254 , GRCh38.p12 chr5: 81,980,865-81,980,865 , GRCh38.p12 chr12: 48,678,471-48,678,471 ATG10, KANSL2
    nsv5335026translocation1nstd200human GRCh37 chr3: 22,423,234-22,423,234 , GRCh37 chr12: 49,048,741-49,048,741 , GRCh38.p12 chr12: 48,654,958-48,654,958 , GRCh38.p12 chr3: 22,381,743-22,381,743 HMGB1P5, KANSL2, 3 more genes
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