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Items: 1 to 20 of 23

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3919826copy number variation1nstd102humanPathogenic GRCh37 chr7: 54,185-159,075,079 , GRCh38 chr7: 54,185-159,282,390 , NCBI36 chr7: 149,268-158,767,840 KBTBD2, RNU6-438P, 2682 more genes
    nsv3888815copy number variation1nstd102humanPathogenic GRCh37 chr7: 12,258,147-140,494,267 , GRCh38.p12 chr7: 12,218,521-140,794,467 KBTBD2, LOC107986817, 2014 more genes
    nsv3897424copy number variation1nstd102humanPathogenic GRCh37 chr7: 32,911,003-44,576,005 , GRCh38.p12 chr7: 32,871,391-44,536,406 KBTBD2, LOC107986734, 192 more genes
    nsv4674822copy number variation1nstd102humanPathogenic GRCh37 chr7: 23,877,135-33,139,446 , GRCh38.p12 chr7: 23,837,516-33,099,834 KBTBD2, RP9P, 156 more genes
    nsv6315453copy number variation1nstd102humanPathogenic GRCh37 chr7: 25,451,740-33,864,069 , GRCh38.p12 chr7: 25,412,121-33,824,457 KBTBD2, PLEKHA8, 141 more genes
    nsv3912277copy number variation1nstd102humanPathogenic NCBI36 chr7: 32,684,528-41,051,106 , GRCh37 chr7: 32,718,003-41,084,581 , GRCh38 chr7: 32,678,391-41,044,983 KBTBD2, MATCAP2, 134 more genes
    nsv6636445copy number variation1nstd102humanPathogenic GRCh37 chr7: 27,133,786-34,466,477 , GRCh38.p12 chr7: 27,094,167-34,426,865 KBTBD2, MIR550A1, 119 more genes
    nsv3894780copy number variation1nstd102humanPathogenic GRCh37 chr7: 10,704-159,122,532 , GRCh38.p12 chr7: 10,704-159,329,842 KBTBD2, RNU6-565P, 2684 more genes
    nsv4455091copy number variation1nstd102humanPathogenic GRCh37 chr7: 10,365-159,119,707 , GRCh38.p12 chr7: 10,365-159,327,017 KBTBD2, RPL23AP51, 2684 more genes
    nsv3909087copy number variation1nstd102humanPathogenic GRCh37 chr7: 44,935-159,126,310 , GRCh38.p12 chr7: 44,935-159,333,620 KBTBD2, MNX1-AS2, 2682 more genes
    nsv3908592copy number variation2nstd102humanPathogenic GRCh37 chr7: 43,361-159,119,707 , GRCh38.p12 chr7: 43,361-159,327,017 KBTBD2, TRGV3, 2682 more genes
    nsv3915802copy number variation1nstd102humanPathogenic GRCh37 chr7: 54,185-41,915,483 , GRCh38 chr7: 54,185-41,875,885 , NCBI36 chr7: 149,268-41,882,008 KBTBD2, RPL23AP52, 638 more genes
    nsv3899194copy number variation1nstd102humanPathogenic GRCh37 chr7: 11,048,840-52,863,626 , GRCh38.p12 chr7: 11,009,213-52,795,933 KBTBD2, BRWD1P3, 590 more genes
    nsv3918785copy number variation1nstd102humanPathogenic GRCh37 chr7: 54,185-37,129,317 , NCBI36 chr7: 149,268-37,095,842 , GRCh38 chr7: 54,185-37,089,712 KBTBD2, MMD2, 554 more genes
    nsv3895449copy number variation1nstd102humanPathogenic GRCh37 chr7: 11,562,624-36,395,416 , GRCh38.p12 chr7: 11,522,997-36,355,807 KBTBD2, HOXA7, 343 more genes
    nsv3898448copy number variation1nstd102humanPathogenic GRCh37 chr7: 30,463,886-43,470,805 , GRCh38.p12 chr7: 30,424,270-43,431,206 KBTBD2, INMT, 193 more genes
    nsv3917886copy number variation1nstd102humanPathogenic NCBI36 chr7: 30,427,074-34,566,802 , GRCh38 chr7: 30,420,933-34,560,665 , GRCh37 chr7: 30,460,549-34,600,277 KBTBD2, INMT, 48 more genes
    nsv6315223complex substitution1nstd102humanPathogenic GRCh37 chr7: 43,360-159,119,707 , GRCh38.p12 chr7: 43,360-159,327,017 KBTBD2, AOC1, 2682 more genes
    nsv4352523inversion1nstd102humanPathogenic GRCh37 chr7: 20,954,043-114,556,605 , GRCh38.p12 chr7: 20,914,424-114,916,550 KBTBD2, ACHE, 1532 more genes
    nsv3921383copy number variation1nstd102humanLikely pathogenic NCBI36 chr7: 30,944,510-33,407,133 , GRCh37 chr7: 30,977,985-33,440,608 , GRCh38 chr7: 30,938,370-33,400,996 KBTBD2, ADCYAP1R1, 31 more genes
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