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Items: 1 to 20 of 210

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5886693copy number variation1nstd209human GRCh38 chr1: 245,774,727-247,219,968 , GRCh37.p13 chr1: 245,938,029-247,383,270 , KIF28P, 35 more genes
    nsv5683153mobile element insertion1nstd211human GRCh38 chr1: 246,787,828-246,787,828 , GRCh37.p13 chr1: 246,951,130-246,951,130 LINC01341
    nsv5395572mobile element insertion1nstd206human GRCh38 chr1: 246,787,828-246,787,879 , GRCh37.p13 chr1: 246,951,130-246,951,181 LINC01341
    nsv5381296copy number variation1nstd102humanPathogenic GRCh37 chr1: 240,554,955-247,342,593 , GRCh38.p12 chr1: 240,391,655-247,179,291 RPL6P3, RN7SKP12, 108 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5213175copy number variation1nstd204human GRCh38.p13 chr1: 246,784,812-246,787,847 , GRCh37.p13 chr1: 246,948,114-246,951,149 KIF28P, LINC01341
    nsv4904606copy number variation1nstd200human GRCh38 chr1: 246,729,269-246,808,821 , GRCh37.p13 chr1: 246,892,571-246,972,123 , SCCPDH, 3 more genes
    nsv4728475copy number variation1nstd102humanUncertain significance GRCh37 chr1: 246,826,117-247,232,960 , GRCh38.p12 chr1: 246,662,815-247,069,658 LINC01341, ZNF670, 10 more genes
    nsv4728429copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 246,853,199-249,181,899 , GRCh38.p12 chr1: 246,689,897-248,887,700 ZNF124, TRIM58, 105 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674355copy number variation1nstd102humanLikely benign GRCh37 chr1: 246,382,096-247,018,065 , GRCh38.p12 chr1: 246,218,794-246,854,763 RPL35AP6, LINC01341, 11 more genes
    nsv4674296copy number variation1nstd102humanUncertain significance GRCh37 chr1: 246,823,634-247,080,322 , GRCh38.p12 chr1: 246,660,332-246,917,020 CNST, LOC102724382, 5 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4567342sequence alteration1nstd166human GRCh37.p13 chr1: 246,165,769-247,414,031 , GRCh38.p12 chr1: 246,002,467-247,250,729 , SMYD3, 35 more genes
    nsv4460789mobile element insertion1nstd166human GRCh37.p13 chr1: 246,951,114-246,951,114 , GRCh38.p12 chr1: 246,787,812-246,787,812 LINC01341
    nsv4455005copy number variation1nstd102humanPathogenic GRCh37 chr1: 238,669,293-249,224,684 , GRCh38.p12 chr1: 238,505,993-248,930,485 ZNF731P, RNU6-947P, 212 more genes
    nsv4454665copy number variation1nstd102humanUncertain significance GRCh37 chr1: 246,614,239-247,022,715 , GRCh38.p12 chr1: 246,450,937-246,859,413 SMYD3, SCCPDH, 11 more genes
    nsv4453906copy number variation1nstd102humanPathogenic GRCh37 chr1: 235,582,580-249,224,684 , GRCh38.p12 chr1: 235,419,265-248,930,485 YWHAQP9, LOC107985747, 268 more genes
    nsv4453436copy number variation1nstd102humanPathogenic GRCh37 chr1: 246,565,044-249,224,684 , GRCh38.p12 chr1: 246,401,742-248,930,485 LOC105373273, OR6F1, 113 more genes
    nsv4451377copy number variation1nstd102humanUncertain significance GRCh37 chr1: 246,821,058-247,265,403 , GRCh38.p12 chr1: 246,657,756-247,102,101 ZNF695, ZNF670-ZNF695, 11 more genes
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