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Items: 20

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv1398578copy number variation1nstd102humanUncertain significance GRCh37 chr7: 92,818,582-92,963,470 , GRCh38.p12 chr7: 93,189,269-93,334,158 VPS50, HEPACAM2
    nsv3919826copy number variation1nstd102humanPathogenic GRCh37 chr7: 54,185-159,075,079 , GRCh38 chr7: 54,185-159,282,390 , NCBI36 chr7: 149,268-158,767,840 VPS50, 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 VPS50, LOC107986817, 2014 more genes
    nsv3914094copy number variation1nstd102humanPathogenic GRCh38 chr7: 84,002,634-95,228,883 , GRCh37 chr7: 83,631,950-94,858,195 , NCBI36 chr7: 83,469,886-94,696,131 VPS50, LINC03017, 121 more genes
    nsv3892887copy number variation1nstd102humanPathogenic GRCh37 chr7: 92,445,452-99,686,985 , GRCh38.p12 chr7: 92,816,138-100,089,362 VPS50, LOC105375402, 153 more genes
    nsv6636271copy number variation1nstd102humanPathogenic GRCh37 chr7: 92,721,627-98,311,537 , GRCh38.p12 chr7: 93,092,314-98,682,225 VPS50, MARK2P10, 97 more genes
    nsv3911538copy number variation1nstd102humanPathogenic NCBI36 chr7: 92,226,394-97,035,894 , GRCh38 chr7: 92,759,144-97,568,646 , GRCh37 chr7: 92,388,458-97,197,958 VPS50, LOC105375410, 75 more genes
    nsv3916221copy number variation1nstd102humanPathogenic NCBI36 chr7: 92,754,488-94,797,369 , GRCh37.p13 chr7: 92,916,552-94,959,433 , GRCh38.p12 chr7: 93,287,240-95,330,121 VPS50, BET1-AS1, 33 more genes
    nsv3894780copy number variation1nstd102humanPathogenic GRCh37 chr7: 10,704-159,122,532 , GRCh38.p12 chr7: 10,704-159,329,842 VPS50, RNU6-565P, 2684 more genes
    nsv4455091copy number variation1nstd102humanPathogenic GRCh37 chr7: 10,365-159,119,707 , GRCh38.p12 chr7: 10,365-159,327,017 VPS50, RPL23AP51, 2684 more genes
    nsv3909087copy number variation1nstd102humanPathogenic GRCh37 chr7: 44,935-159,126,310 , GRCh38.p12 chr7: 44,935-159,333,620 VPS50, MNX1-AS2, 2682 more genes
    nsv3908592copy number variation2nstd102humanPathogenic GRCh37 chr7: 43,361-159,119,707 , GRCh38.p12 chr7: 43,361-159,327,017 VPS50, TRGV3, 2682 more genes
    nsv6313801copy number variation1nstd102humanPathogenic GRCh37 chr7: 77,821,356-93,340,137 , GRCh38.p12 chr7: 78,192,039-93,710,825 VPS50, SOCS5P1, 140 more genes
    nsv5381780copy number variation1nstd102humanPathogenic GRCh37 chr7: 87,477,185-100,333,327 , GRCh38.p12 chr7: 87,847,870-100,735,704 VPS50, ARPC1A, 265 more genes
    nsv6315223complex substitution1nstd102humanPathogenic GRCh37 chr7: 43,360-159,119,707 , GRCh38.p12 chr7: 43,360-159,327,017 VPS50, AOC1, 2682 more genes
    nsv4352523inversion1nstd102humanPathogenic GRCh37 chr7: 20,954,043-114,556,605 , GRCh38.p12 chr7: 20,914,424-114,916,550 VPS50, ACHE, 1532 more genes
    nsv3912266copy number variation1nstd102humanLikely pathogenic NCBI36 chr7: 92,412,396-93,979,346 , GRCh37 chr7: 92,574,460-94,141,410 , GRCh38 chr7: 92,945,146-94,512,098 VPS50, CALCR, 24 more genes
    nsv6634332copy number variation1nstd102humanUncertain significance GRCh37 chr7: 113,371-159,042,325 , GRCh38.p12 chr7: 113,371-159,249,635 VPS50, RRBP1P1, 2680 more genes
    nsv3873500copy number variation1nstd102humanUncertain significance GRCh37 chr7: 73,591,993-93,683,437 , GRCh38.p12 chr7: 74,177,663-94,054,125 VPS50, LOC645324, 242 more genes
    nsv6313572copy number variation1nstd102humanUncertain significance GRCh37 chr7: 92,044,792-93,320,149 , GRCh38.p12 chr7: 92,415,478-93,690,837 VPS50, CDK6-AS1, 20 more genes
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