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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5449971copy number variation1nstd206human GRCh38 chr1: 207,809,859-207,810,072 , GRCh37.p13 chr1: 207,983,204-207,983,417 MIR29B2CHG
    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
    nsv5329500translocation1nstd204human GRCh38.p13 chr1: 194,772,506-194,772,506 , GRCh38.p13 chr1: 207,801,893-207,801,893 , GRCh37.p13 chr1: 194,741,636-194,741,636 , GRCh37.p13 chr1: 207,975,238-207,975,238 MIR29B2, MIR29C, 1 more genes
    nsv4898409copy number variation1nstd200human GRCh38 chr1: 207,809,859-207,810,072 , GRCh37.p13 chr1: 207,983,204-207,983,417 MIR29B2CHG
    nsv4898408copy number variation1nstd200human GRCh38 chr1: 207,806,429-207,812,718 , GRCh37.p13 chr1: 207,979,774-207,986,063 MIR29B2CHG
    nsv4774171copy number variation1nstd200human GRCh37 chr1: 207,983,204-207,983,417 , GRCh38.p12 chr1: 207,809,859-207,810,072 MIR29B2CHG
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4679407copy number variation1nstd189human GRCh37.p13 chr1: 207,982,207-208,980,299 , GRCh38.p12 chr1: 207,808,862-208,806,954 , CD34, 14 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
    nsv4516715copy number variation1nstd166human GRCh37.p13 chr1: 207,930,080-214,726,645 , GRCh38.p12 chr1: 207,756,735-214,553,302 , UTP25, 121 more genes
    nsv4452160copy number variation1nstd102humanUncertain significance GRCh37 chr1: 206,329,070-213,263,817 , GRCh38.p12 chr1: 206,308,879-213,090,475 CDCA4P4, LOC105372889, 146 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
    nsv4066805copy number variation1nstd166human GRCh37.p13 chr1: 207,979,774-207,986,063 , GRCh38.p12 chr1: 207,806,429-207,812,718 MIR29B2CHG
    nsv4053566copy number variation1nstd166human GRCh37.p13 chr1: 207,995,000-208,003,000 , GRCh38.p12 chr1: 207,821,655-207,829,655 MIR29B2CHG, LOC148696
    nsv3901751copy number variation1nstd102humanPathogenic GRCh37 chr1: 207,756,872-210,332,526 , GRCh38 chr1: 207,583,527-210,159,181 , NCBI36 chr1: 205,823,495-208,399,149 LOC105372899, CD34, 49 more genes
    nsv3897747copy number variation1nstd102humanPathogenic GRCh38 chr1: 207,346,642-248,930,485 , GRCh37 chr1: 207,519,987-249,224,684 , NCBI36 chr1: 205,586,610-247,191,307 RPS18P3, LOC128136, 793 more genes
    nsv3895767copy number variation1nstd102humanPathogenic GRCh38 chr1: 187,143,981-224,299,417 , NCBI36 chr1: 185,379,736-222,553,742 , GRCh37 chr1: 187,113,113-224,487,119 LOC107985458, SLC45A3, 590 more genes
    nsv3892738copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,734,042-225,596,400 , NCBI36 chr1: 203,000,665-223,663,023 , GRCh38 chr1: 204,764,914-225,408,698 HLX, SNORA16B, 354 more genes
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