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Items: 1 to 20 of 170

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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
    nsv5874151copy number variation1nstd209human GRCh38 chr1: 13,714,112-20,623,728 , GRCh37.p13 chr1: 14,040,607-20,950,221 , TRV-CAC11-1, 171 more genes
    nsv5433110copy number variation1nstd206human GRCh38 chr1: 16,985,317-16,985,529 , GRCh37.p13 chr1: 17,311,812-17,312,024 ATP13A2
    nsv5422918copy number variation1nstd206human GRCh38 chr1: 17,006,101-17,008,913 , GRCh37.p13 chr1: 17,332,596-17,335,408 ATP13A2
    nsv5072059mobile element insertion1nstd203human GRCh38 chr1: 17,008,081-17,008,081 , GRCh37.p13 chr1: 17,334,576-17,334,576 ATP13A2
    nsv4903122copy number variation1nstd200human GRCh38 chr1: 16,989,009-17,061,329 , GRCh37.p13 chr1: 17,315,504-17,387,824 ATP13A2, SDHB
    nsv4895066copy number variation1nstd200human GRCh38 chr1: 16,991,240-16,993,170 , GRCh37.p13 chr1: 17,317,735-17,319,665 ATP13A2
    nsv4895065copy number variation1nstd200human GRCh38 chr1: 16,985,317-16,985,529 , GRCh37.p13 chr1: 17,311,812-17,312,024 ATP13A2
    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
    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
    nsv4716548copy number variation1nstd102humanPathogenic GRCh38 chr1: 16,991,222-16,993,187 , GRCh37 chr1: 17,317,717-17,319,682 ATP13A2
    nsv4579738copy number variation1nstd183human GRCh37 chr1: 17,225,225-17,368,743 , GRCh38.p12 chr1: 16,898,730-17,042,248 CROCC, ATP13A2, 3 more genes
    nsv4579625copy number variation1nstd183human GRCh37 chr1: 17,319,778-17,386,880 , GRCh38.p12 chr1: 16,993,283-17,060,385 SDHB, ATP13A2
    nsv4459568mobile element insertion1nstd166human GRCh37.p13 chr1: 17,314,388-17,314,388 , GRCh38.p12 chr1: 16,987,893-16,987,893 ATP13A2
    nsv4453687copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,318,209-17,319,096 , GRCh38 chr1: 16,991,714-16,992,601 ATP13A2
    nsv4452595copy number variation1nstd102humanUncertain significance GRCh37 chr1: 17,298,230-17,542,448 , GRCh38.p12 chr1: 16,971,735-17,215,953 MFAP2, CROCC, 7 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
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