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Items: 1 to 20 of 163

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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
    nsv7045795inversion1nstd229human GRCh38 chr2: 195,566,013-199,490,438 , GRCh37.p13 chr2: 196,430,737-200,355,161 LINC01827, LOC107985972, 48 more genes
    nsv6697182copy number variation1nstd229human GRCh38 chr2: 192,562,889-202,434,958 , GRCh37.p13 chr2: 193,427,615-203,299,681 RNU6-915P, SLC44A3P1, 150 more genes
    nsv6695644copy number variation1nstd229human GRCh38 chr2: 197,678,001-197,706,200 , GRCh37.p13 chr2: 198,542,725-198,570,924 MARS2
    nsv6680293copy number variation1nstd229human GRCh38 chr2: 197,677,901-197,703,600 , GRCh37.p13 chr2: 198,542,625-198,568,324 MARS2
    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
    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
    nsv6636426copy number variation1nstd102humanUncertain significance GRCh37 chr2: 198,526,013-198,630,600 , GRCh38.p12 chr2: 197,661,289-197,765,876 RFTN2, MARS2, 1 more genes
    nsv6348968copy number variation1nstd223human GRCh38 chr2: 197,705,001-197,705,500 , GRCh37.p13 chr2: 198,569,725-198,570,224 MARS2
    nsv6344653copy number variation1nstd223human GRCh38 chr2: 197,704,901-197,706,300 , GRCh37.p13 chr2: 198,569,625-198,571,024 MARS2
    nsv6339226copy number variation1nstd223human GRCh38 chr2: 197,704,901-197,705,500 , GRCh37.p13 chr2: 198,569,625-198,570,224 MARS2
    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
    nsv6313482copy number variation1nstd102humanPathogenic GRCh37 chr2: 197,586,481-200,793,870 , GRCh38.p12 chr2: 196,721,757-199,929,147 RPL4P7, SF3B1, 38 more genes
    nsv6311200copy number variation1nstd102humanUncertain significance GRCh38 chr2: 197,706,609-197,706,723 , GRCh37 chr2: 198,571,333-198,571,447 MARS2
    nsv6290145copy number variation1nstd102humanPathogenic GRCh37 chr2: 198,570,129-198,570,130 , GRCh38 chr2: 197,705,405-197,705,406 MARS2
    nsv6134444copy number variation1nstd213human GRCh37 chr2: 198,350,000-198,580,001 , GRCh38.p12 chr2: 197,485,276-197,715,277 HSPD1, HSPE1, 6 more genes
    nsv5682225mobile element insertion1nstd211human GRCh38 chr2: 197,708,797-197,708,797 , GRCh37.p13 chr2: 198,573,521-198,573,521 MARS2
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5413637mobile element insertion1nstd206human GRCh38 chr2: 197,708,797-197,708,848 , GRCh37.p13 chr2: 198,573,521-198,573,572 MARS2
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