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Items: 1 to 20 of 230

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112671copy number variation1nstd102humanPathogenic GRCh37 chr1: 244,811,325-245,725,982 , GRCh38.p12 chr1: 244,648,023-245,562,680 LOC107985725, RN7SKP55, 15 more genes
    nsv5884810copy number variation1nstd209human GRCh38 chr1: 244,853,207-244,854,321 , GRCh37.p13 chr1: 245,016,509-245,017,623 HNRNPU, SNORA100
    nsv5881248copy number variation1nstd209human GRCh38 chr1: 244,750,929-246,218,341 , GRCh37.p13 chr1: 244,914,231-246,381,643 , LOC101928068, 22 more genes
    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
    nsv5381073copy number variation2nstd102humanUncertain significance GRCh37 chr1: 245,017,752-245,027,609 , GRCh38.p12 chr1: 244,854,450-244,864,307 SNORA100, HNRNPU
    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
    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
    nsv4674076copy number variation1nstd102humanPathogenic GRCh37 chr1: 242,483,182-245,087,048 , GRCh38.p12 chr1: 242,319,880-244,923,746 LOC105373262, SNORA100, 38 more genes
    nsv4673982copy number variation1nstd102humanUncertain significance GRCh37 chr1: 244,546,830-246,826,108 , GRCh38.p12 chr1: 244,383,528-246,662,806 SMYD3-AS1, LOC105373265, 31 more genes
    nsv4581019copy number variation1nstd183human GRCh37 chr1: 245,023,808-245,027,787 , GRCh38.p12 chr1: 244,860,506-244,864,485 HNRNPU
    nsv4581018copy number variation1nstd183human GRCh37 chr1: 245,021,057-245,021,211 , GRCh38.p12 chr1: 244,857,755-244,857,909 HNRNPU
    nsv4580835copy number variation1nstd183human GRCh37 chr1: 245,021,001-245,021,329 , GRCh38.p12 chr1: 244,857,699-244,858,027 HNRNPU
    nsv4580834copy number variation1nstd183human GRCh37 chr1: 245,020,125-245,021,211 , GRCh38.p12 chr1: 244,856,823-244,857,909 HNRNPU
    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
    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
    nsv4453371copy number variation1nstd102humanPathogenic GRCh37 chr1: 245,023,617-245,026,052 , GRCh38 chr1: 244,860,315-244,862,750 HNRNPU
    nsv4451356copy number variation1nstd102humanPathogenic GRCh37 chr1: 244,379,481-249,224,684 , GRCh38.p12 chr1: 244,216,179-248,930,485 RPL35AP6, LOC107985747, 140 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4450230copy number variation1nstd102humanPathogenic GRCh37 chr1: 244,991,997-245,117,237 , GRCh38.p12 chr1: 244,828,695-244,953,935 COX20, RNU6-947P, 3 more genes
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