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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv5673243copy number variation1nstd102humanPathogenic GRCh37 chr1: 20,972,043-20,972,226 , GRCh38.p12 chr1: 20,645,550-20,645,733 PINK1, PINK1-AS
    nsv5357086translocation1nstd200human GRCh38 chr1: 20,648,943-20,648,943 , GRCh38 chr1: 20,649,236-20,649,236 , GRCh37.p13 chr1: 20,975,729-20,975,729 , GRCh37.p13 chr1: 20,975,436-20,975,436 PINK1-AS, PINK1
    nsv4895211copy number variation1nstd200human GRCh38 chr1: 20,638,178-20,642,257 , GRCh37.p13 chr1: 20,964,671-20,968,750 PINK1-AS, PINK1
    nsv4895208copy number variation1nstd200human GRCh38 chr1: 20,583,646-20,668,097 , GRCh37.p13 chr1: 20,910,139-20,994,590 CDA, DDOST, 4 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4739624copy number variation1nstd199human GRCh37 chr1: 20,969,555-20,969,630 , GRCh38.p12 chr1: 20,643,062-20,643,137 PINK1, PINK1-AS
    nsv4728344copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,906-21,778,495 , GRCh38.p12 chr1: 16,958,411-21,452,002 NBL1, AKR7A2, 98 more genes
    nsv4728309copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371 RNU1-6P, TRG-CCC4-1, 150 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 ALPL, C1QA, 174 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4374380copy number variation1nstd173human GRCh37 chr1: 20,977,117-21,036,189 , GRCh38.p12 chr1: 20,650,624-20,709,696 PINK1-AS, PINK1, 2 more genes
    nsv4369449copy number variation1nstd173human GRCh37 chr1: 20,976,535-21,036,201 , GRCh38.p12 chr1: 20,650,042-20,709,708 KIF17, PINK1, 2 more genes
    nsv3959687insertion1nstd168human GRCh38 chr1: 20,560,192-20,652,430 , GRCh37.p13 chr1: 20,886,685-20,978,923 CDA, DDOST, 3 more genes
    nsv3907378copy number variation1nstd102humanPathogenic GRCh38 chr1: 20,482,657-21,271,999 , NCBI36 chr1: 20,681,737-21,471,079 , GRCh37 chr1: 20,809,150-21,598,492 RPS4XP4, CAMK2N1, 18 more genes
    nsv3899287copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349 EMC1-AS1, TRV-CAC11-2, 166 more genes
    nsv3892078copy number variation1nstd102humanUncertain significance GRCh38 chr1: 19,548,795-20,935,131 , GRCh37 chr1: 19,875,289-21,261,624 , NCBI36 chr1: 19,747,876-21,134,211 PINK1-AS, MICOS10, 39 more genes
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