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Items: 1 to 20 of 307

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5685968mobile element insertion2nstd211human GRCh38 chr2: 196,153,267-196,153,267 , GRCh37.p13 chr2: 197,017,991-197,017,991 STK17B
    nsv5681513mobile element insertion1nstd211human GRCh38 chr2: 196,150,203-196,150,203 , GRCh37.p13 chr2: 197,014,927-197,014,927 STK17B
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5439345copy number variation1nstd206human GRCh38 chr2: 196,126,397-196,161,166 , GRCh37.p13 chr2: 196,991,121-197,025,890 STK17B
    nsv5399962mobile element insertion1nstd206human GRCh38 chr2: 196,153,531-196,153,582 , GRCh37.p13 chr2: 197,018,255-197,018,306 STK17B
    nsv5312975copy number variation1nstd204human GRCh38.p13 chr2: 196,123,649-196,133,273 , GRCh37.p13 chr2: 196,988,373-196,997,997 STK17B
    nsv5217281copy number variation1nstd204human GRCh38.p13 chr2: 196,123,728-196,132,791 , GRCh37.p13 chr2: 196,988,452-196,997,515 STK17B
    nsv5209612copy number variation1nstd204human GRCh38.p13 chr2: 196,142,843-196,144,954 , GRCh37.p13 chr2: 197,007,567-197,009,678 STK17B
    nsv5069128mobile element insertion1nstd203human GRCh38 chr2: 196,135,777-196,135,800 , GRCh37.p13 chr2: 197,000,501-197,000,524 STK17B
    nsv5067830mobile element insertion1nstd203human GRCh38 chr2: 196,153,515-196,153,531 , GRCh37.p13 chr2: 197,018,239-197,018,255 STK17B
    nsv4913788copy number variation1nstd200human GRCh38 chr2: 196,155,577-196,155,801 , GRCh37.p13 chr2: 197,020,301-197,020,525 STK17B
    nsv4913787copy number variation1nstd200human GRCh38 chr2: 196,143,566-196,145,174 , GRCh37.p13 chr2: 197,008,290-197,009,898 STK17B
    nsv4913785copy number variation1nstd200human GRCh38 chr2: 196,123,883-196,133,084 , GRCh37.p13 chr2: 196,988,607-196,997,808 STK17B
    nsv4804528copy number variation1nstd200human GRCh37 chr2: 197,008,290-197,009,898 , GRCh38.p12 chr2: 196,143,566-196,145,174 STK17B
    nsv4804527copy number variation1nstd200human GRCh37 chr2: 196,988,607-196,997,808 , GRCh38.p12 chr2: 196,123,883-196,133,084 STK17B
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728689copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 188,294,864-197,731,939 , GRCh38.p12 chr2: 187,430,137-196,867,215 COL3A1, COL5A2, 98 more genes
    nsv4716529copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,345,272-200,212,289 , GRCh38.p12 chr2: 189,480,546-199,347,566 C2orf66, LINC01821, 105 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4585073copy number variation1nstd183human GRCh37 chr2: 197,030,651-197,035,554 , GRCh38.p12 chr2: 196,165,927-196,170,830 LOC101927454, STK17B
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