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Items: 1 to 20 of 218

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112805copy number variation1nstd102humanPathogenic GRCh37 chr16: 5,129,043-5,129,828 , GRCh38.p12 chr16: 5,079,042-5,079,827 ALG1
    nsv6112797copy number variation1nstd102humanPathogenic GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012 ANTKMT, HBA1, 307 more genes
    nsv6112782copy number variation1nstd102humanPathogenic GRCh37 chr16: 5,121,789-5,133,778 , GRCh38.p12 chr16: 5,071,788-5,083,777 EEF2KMT, ALG1
    nsv5658948insertion1nstd207human GRCh38 chr16: 5,085,312-5,085,312 , GRCh37.p13 chr16: 5,135,313-5,135,313 EEF2KMT, ALG1
    nsv5590863copy number variation1nstd207human GRCh38 chr16: 5,074,941-5,094,300 , GRCh37.p13 chr16: 5,124,942-5,144,301 EEF2KMT, ALG1
    nsv5529697copy number variation1nstd206human GRCh38 chr16: 4,957,857-5,308,524 , GRCh37.p13 chr16: 5,007,858-5,358,525 , LOC105371067, 12 more genes
    nsv5527611copy number variation1nstd206human GRCh38 chr16: 5,004,687-5,310,668 , GRCh37.p13 chr16: 5,054,688-5,360,669 , RPS3AP48, 12 more genes
    nsv5524694copy number variation1nstd206human GRCh38 chr16: 5,074,633-5,094,284 , GRCh37.p13 chr16: 5,124,634-5,144,285 EEF2KMT, ALG1
    nsv5320100copy number variation1nstd204human GRCh37.p13 chr16: 5,117,241-5,226,079 , GRCh38.p13 chr16: 5,067,240-5,176,078 ALG1, EEF2KMT, 2 more genes
    nsv5313629copy number variation1nstd204human GRCh38.p13 chr16: 4,957,847-5,308,533 , GRCh37.p13 chr16: 5,007,848-5,358,534 , SEC14L5, 12 more genes
    nsv5301333copy number variation1nstd204human GRCh37.p13 chr16: 5,124,924-5,144,294 , GRCh38.p13 chr16: 5,074,923-5,094,293 ALG1, EEF2KMT
    nsv5270813copy number variation1nstd204human GRCh38.p13 chr16: 5,067,251-5,097,928 , GRCh37.p13 chr16: 5,117,252-5,147,929 EEF2KMT, ALG1
    nsv5269327copy number variation1nstd204human GRCh37.p13 chr16: 5,008,302-5,252,801 , GRCh38.p13 chr16: 4,958,301-5,202,800 SEC14L5, NAGPA, 6 more genes
    nsv5266349copy number variation1nstd204human GRCh38.p13 chr16: 5,067,301-5,175,700 , GRCh37.p13 chr16: 5,117,302-5,225,701 EEF2KMT, ENPP7P14, 2 more genes
    nsv5265418copy number variation1nstd204human GRCh38.p13 chr16: 5,074,944-5,080,706 , GRCh37.p13 chr16: 5,124,945-5,130,707 ALG1
    nsv5008139copy number variation1nstd200human GRCh38 chr16: 5,074,945-5,094,293 , GRCh37.p13 chr16: 5,124,946-5,144,294 ALG1, EEF2KMT
    nsv5008138copy number variation1nstd200human GRCh38 chr16: 5,067,262-5,176,049 , GRCh37.p13 chr16: 5,117,263-5,226,050 ENPP7P14, LOC107984828, 2 more genes
    nsv5008116copy number variation1nstd200human GRCh38 chr16: 4,732,537-5,127,796 , GRCh37.p13 chr16: 4,782,538-5,177,797 NAGPA, PPL, 16 more genes
    nsv4994363copy number variation1nstd200human GRCh38 chr16: 5,083,875-5,095,923 , GRCh37.p13 chr16: 5,133,876-5,145,924 EEF2KMT, ALG1
    nsv4994361copy number variation1nstd200human GRCh38 chr16: 5,004,687-5,310,668 , GRCh37.p13 chr16: 5,054,688-5,360,669 , SEC14L5, 12 more genes
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