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Items: 1 to 20 of 114

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5686332mobile element insertion1nstd211human GRCh38 chr2: 170,753,024-170,753,024 , GRCh37.p13 chr2: 171,609,534-171,609,534 EIF2S2P4, ERICH2-DT
    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
    nsv5405930mobile element insertion1nstd206human GRCh38 chr2: 170,753,024-170,753,075 , GRCh37.p13 chr2: 171,609,534-171,609,585 EIF2S2P4, ERICH2-DT
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4926469copy number variation1nstd200human GRCh38 chr2: 170,748,516-170,752,891 , GRCh37.p13 chr2: 171,605,026-171,609,401 EIF2S2P4, ERICH2-DT
    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
    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
    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
    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
    nsv3914220copy number variation1nstd102humanPathogenic NCBI36 chr2: 166,992,294-175,094,656 , GRCh37.p13 chr2: 167,284,048-175,386,410 , GRCh38.p12 chr2: 166,427,538-174,521,682 GPR155-DT, DAP3P2, 111 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3909452copy number variation1nstd102humanPathogenic GRCh37 chr2: 165,706,627-176,423,918 , GRCh38 chr2: 164,850,117-175,559,190 , NCBI36 chr2: 165,414,873-176,132,164 LOC107985959, TTC21B, 141 more genes
    nsv3908425copy number variation1nstd102humanPathogenic GRCh37 chr2: 170,957,940-172,100,119 , GRCh38 chr2: 170,101,430-171,243,609 , NCBI36 chr2: 170,666,186-171,808,365 ERICH2-DT, LINC01124, 12 more genes
    nsv3904056copy number variation1nstd102humanPathogenic GRCh37 chr2: 164,821,892-183,059,789 , NCBI36 chr2: 164,530,138-182,768,034 , GRCh38 chr2: 163,965,382-182,195,062 PRKRA, STK39, 256 more genes
    nsv3903934copy number variation1nstd102humanPathogenic GRCh37 chr2: 164,922,548-172,962,614 , NCBI36 chr2: 164,630,794-172,670,860 , GRCh38 chr2: 164,066,038-172,097,886 LOC105373739, RNA5SP110, 95 more genes
    nsv3894385copy number variation1nstd102humanPathogenic NCBI36 chr2: 170,972,444-186,762,866 , GRCh37 chr2: 171,264,198-187,054,621 , GRCh38 chr2: 170,407,688-186,189,894 KRT18P29, ITGA4, 220 more genes
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