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Items: 1 to 20 of 154

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096595copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr2: 191,835,429-192,012,929 , GRCh38.p12 chr2: 190,970,703-191,148,203 STAT1, STAT4, 4 more genes
    nsv7096119copy number variation2nstd102humanUncertain significance GRCh37 chr2: 189,839,216-192,012,929 , GRCh38.p12 chr2: 188,974,490-191,148,203 NAB1, ANKAR, 38 more genes
    nsv6688760copy number variation1nstd229human GRCh38 chr2: 190,987,048-191,003,801 , GRCh37.p13 chr2: 191,851,774-191,868,527 RAB1AP1, STAT1
    nsv6687504copy number variation1nstd229human GRCh38 chr2: 190,894,701-192,994,500 , GRCh37.p13 chr2: 191,759,427-193,859,226 LOC107985785, NABP1, 19 more genes
    nsv6686667copy number variation1nstd229human GRCh38 chr2: 190,977,501-191,000,600 , GRCh37.p13 chr2: 191,842,227-191,865,326 RAB1AP1, STAT1
    nsv6684138copy number variation1nstd229human GRCh38 chr2: 190,970,501-191,077,500 , GRCh37.p13 chr2: 191,835,227-191,942,226 LOC107985785, STAT4, 3 more genes
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6636880copy number variation1nstd102humanUncertain significance GRCh37 chr2: 191,796,439-191,859,919 , GRCh38.p12 chr2: 190,931,713-190,995,193 STAT1, RAB1AP1, 1 more genes
    nsv6636852copy number variation1nstd102humanUncertain significance GRCh37 chr2: 191,686,987-191,908,183 , GRCh38.p12 chr2: 190,822,261-191,043,457 RAB1AP1, STAT4-AS1, 4 more genes
    nsv6636572copy number variation1nstd102humanUncertain significance GRCh37 chr2: 191,686,825-191,908,183 , GRCh38.p12 chr2: 190,822,099-191,043,457 RAB1AP1, STAT4-AS1, 4 more genes
    nsv6636571copy number variation1nstd102humanPathogenic GRCh37 chr2: 187,152,754-199,960,525 , GRCh38.p12 chr2: 186,288,027-199,095,802 GAPDHP59, OSGEPL1-AS1, 135 more genes
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6134337copy number variation1nstd213human GRCh37 chr2: 191,820,000-192,080,001 , GRCh38.p12 chr2: 190,955,274-191,215,275 GLS, STAT1, 7 more genes
    nsv5987123copy number variation1nstd212human GRCh38 chr2: 190,991,758-190,992,119 , GRCh37.p13 chr2: 191,856,484-191,856,845 STAT1, RAB1AP1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5077909mobile element insertion1nstd203human GRCh38 chr2: 190,992,791-190,992,803 , GRCh37.p13 chr2: 191,857,517-191,857,529 STAT1, RAB1AP1
    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
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