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Items: 1 to 20 of 172

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5077128mobile element insertion1nstd203human GRCh38 chr2: 176,635,765-176,635,778 , GRCh37.p13 chr2: 177,500,493-177,500,506 LINC01116, LINC01117
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4909773copy number variation1nstd200human GRCh38 chr2: 176,644,375-176,645,041 , GRCh37.p13 chr2: 177,509,103-177,509,769 LINC01117
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 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
    nsv4464951mobile element insertion1nstd166human GRCh37.p13 chr2: 177,500,699-177,500,699 , GRCh38.p12 chr2: 176,635,971-176,635,971 LINC01116, LINC01117
    nsv4454949copy number variation1nstd102humanUncertain significance GRCh37 chr2: 177,073,852-177,509,634 , GRCh38.p12 chr2: 176,209,124-176,644,906 PPIAP67, LINC01116, 4 more genes
    nsv4454648copy number variation1nstd102humanPathogenic GRCh37 chr2: 173,538,954-186,401,606 , GRCh38.p12 chr2: 172,674,226-185,536,879 PDE11A, LOC100289479, 176 more genes
    nsv4452748copy number variation1nstd102humanPathogenic GRCh37 chr2: 176,310,551-179,092,634 , GRCh38.p12 chr2: 175,445,823-178,227,907 LOC105373760, LOC105369143, 63 more genes
    nsv4451975copy number variation1nstd102humanUncertain significance GRCh37 chr2: 177,062,988-177,509,634 , GRCh38.p12 chr2: 176,198,260-176,644,906 LINC01117, RPSAP25, 5 more genes
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 more genes
    nsv4347240copy number variation1nstd102humanPathogenic GRCh37 chr2: 176,794,846-178,494,259 , GRCh38.p12 chr2: 175,930,118-177,629,531 HAGLROS, RNU6ATAC14P, 52 more genes
    nsv3965364copy number variation1nstd168human GRCh38 chr2: 176,643,140-176,663,329 , GRCh37.p13 chr2: 177,507,868-177,528,057 LINC01117, RNU6ATAC14P
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
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