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Items: 1 to 20 of 146

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096308copy number variation1nstd102humanUncertain significance GRCh37 chr22: 35,776,672-42,486,826 , GRCh38.p12 chr22: 35,380,679-42,090,822 CDC42EP1, SREBF2, 231 more genes
    nsv7069304inversion1nstd229human GRCh38 chr22: 41,294,727-42,750,704 , GRCh37.p13 chr22: 41,690,731-43,146,710 SERHL2, CSDC2, 63 more genes
    nsv7061959inversion1nstd229human GRCh38 chr22: 36,818,005-44,993,640 , GRCh37.p13 chr22: 37,214,049-45,389,520 SMIM45, A4GALT, 271 more genes
    nsv7058666inversion1nstd229human GRCh38 chr22: 39,066,437-42,707,681 , GRCh37.p13 chr22: 39,462,442-43,103,687 LOC101927344, ATF4, 128 more genes
    nsv7032851copy number variation1nstd229human GRCh38 chr22: 41,906,918-42,052,326 , GRCh37.p13 chr22: 42,302,922-42,448,330 SLC25A5P1, SHISA8, 7 more genes
    nsv7027741copy number variation1nstd229human GRCh38 chr22: 39,432,386-49,047,389 , GRCh37.p13 chr22: 39,828,391-49,443,201 LOC105373064, ACO2, 233 more genes
    nsv7019125copy number variation1nstd229human GRCh38 chr22: 41,996,469-42,018,001 , GRCh37.p13 chr22: 42,392,473-42,414,005 SLC25A5P1, SEPTIN3, 1 more genes
    nsv6596534inversion1nstd223human GRCh38 chr22: 39,133,553-42,757,193 , GRCh37.p13 chr22: 39,529,558-43,153,199 POLR3H, ACO2, 123 more genes
    nsv6535893copy number variation1nstd223human GRCh38 chr22: 41,572,303-44,198,988 , GRCh37.p13 chr22: 41,968,307-44,594,868 , RPS25P10, 87 more genes
    nsv6311137copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,277,754-43,089,957 , GRCh38.p12 chr22: 40,881,750-42,693,951 RRP7A, OGFRP1, 79 more genes
    nsv6290298copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,321,321-51,244,066 , GRCh38.p12 chr22: 41,925,317-50,805,638 CERK, LINC01315, 212 more genes
    nsv6146724copy number variation1nstd206human GRCh38 chr22: 41,967,100-41,973,564 , GRCh37.p13 chr22: 42,363,104-42,369,568 SEPTIN3
    nsv6134214copy number variation1nstd213human GRCh37 chr22: 40,070,000-44,960,001 , GRCh38.p12 chr22: 39,673,995-44,564,121 , ACO2, 148 more genes
    nsv6134067copy number variation1nstd213human GRCh37 chr22: 40,070,000-43,110,001 , GRCh38.p12 chr22: 39,673,995-42,713,995 ACO2, ADSL, 106 more genes
    nsv5550525copy number variation1nstd206human GRCh38 chr22: 41,973,287-41,974,299 , GRCh37.p13 chr22: 42,369,291-42,370,303 SEPTIN3
    nsv5543387copy number variation1nstd206human GRCh38 chr22: 41,988,016-41,988,067 , GRCh37.p13 chr22: 42,384,020-42,384,071 SEPTIN3
    nsv5542293copy number variation1nstd206human GRCh38 chr22: 41,973,844-41,974,504 , GRCh37.p13 chr22: 42,369,848-42,370,508 SEPTIN3
    nsv5536497copy number variation1nstd206human GRCh38 chr22: 41,990,473-41,990,791 , GRCh37.p13 chr22: 42,386,477-42,386,795 SEPTIN3
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5381088copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,356,886-43,684,002 , GRCh38.p12 chr22: 41,960,882-43,287,996 CYP2D8P, SCUBE1, 49 more genes
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