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Items: 1 to 20 of 211

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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
    nsv7146164copy number variation1nstd232human GRCh37.p13 chr2: 198,269,899-198,269,995 , GRCh38.p12 chr2: 197,405,175-197,405,271 SF3B1
    nsv7144921insertion1nstd232human GRCh37.p13 chr2: 198,272,845-198,272,845 , GRCh38.p12 chr2: 197,408,121-197,408,121 SF3B1
    nsv7141814copy number variation1nstd232human GRCh37.p13 chr2: 198,264,889-198,264,973 , GRCh38.p12 chr2: 197,400,165-197,400,249 SF3B1
    nsv7137812copy number variation1nstd232human GRCh37.p13 chr2: 198,266,611-198,266,706 , GRCh38.p12 chr2: 197,401,887-197,401,982 SF3B1
    nsv7137221insertion1nstd232human GRCh37.p13 chr2: 198,285,269-198,285,269 , GRCh38.p12 chr2: 197,420,545-197,420,545 SF3B1
    nsv7047711inversion1nstd229human GRCh38 chr2: 197,362,731-197,418,415 , GRCh37.p13 chr2: 198,227,455-198,283,139 SF3B1, NPM1P46
    nsv7045795inversion1nstd229human GRCh38 chr2: 195,566,013-199,490,438 , GRCh37.p13 chr2: 196,430,737-200,355,161 LINC01827, LOC107985972, 48 more genes
    nsv6697930copy number variation1nstd229human GRCh38 chr2: 197,421,801-197,612,200 , GRCh37.p13 chr2: 198,286,525-198,476,924 MOB4, HSPE1, 8 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
    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
    nsv6636947copy number variation1nstd102humanUncertain significance GRCh37 chr2: 197,704,153-198,552,092 , GRCh38.p12 chr2: 196,839,429-197,687,368 SF3B1, RPL4P7, 17 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
    nsv6547292inversion1nstd223human GRCh38 chr2: 197,413,297-197,414,086 , GRCh37.p13 chr2: 198,278,021-198,278,810 SF3B1
    nsv6541920inversion1nstd223human GRCh38 chr2: 197,393,491-197,394,050 , GRCh37.p13 chr2: 198,258,215-198,258,774 SF3B1
    nsv6352171copy number variation1nstd223human GRCh38 chr2: 197,394,142-197,394,732 , GRCh37.p13 chr2: 198,258,866-198,259,456 SF3B1
    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
    nsv6313500copy number variation1nstd102humanUncertain significance GRCh37 chr2: 198,057,503-198,461,454 , GRCh38.p12 chr2: 197,192,779-197,596,730 HSPD1, HSPE1-MOB4, 14 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
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