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Items: 1 to 20 of 173

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096106copy number variation1nstd102humanUncertain significance GRCh37 chr2: 175,427,275-175,629,122 , GRCh38.p12 chr2: 174,562,547-174,764,394 WIPF1, H3P6, 2 more genes
    nsv7049501inversion1nstd229human GRCh38 chr2: 174,685,774-174,733,155 , GRCh37.p13 chr2: 175,550,502-175,597,883 H3P6
    nsv7049124inversion1nstd229human GRCh38 chr2: 174,401,435-175,981,960 , GRCh37.p13 chr2: 175,266,163-176,846,688 LNPK, RNU7-44P, 19 more genes
    nsv7039602inversion1nstd229human GRCh38 chr2: 174,719,305-174,741,886 , GRCh37.p13 chr2: 175,584,033-175,606,614 H3P6
    nsv6690819copy number variation1nstd229human GRCh38 chr2: 174,704,944-174,757,173 , GRCh37.p13 chr2: 175,569,672-175,621,901 H3P6, CHRNA1
    nsv6686448copy number variation1nstd229human GRCh38 chr2: 174,715,224-174,724,847 , GRCh37.p13 chr2: 175,579,952-175,589,575 H3P6
    nsv6637115copy number variation1nstd102humanPathogenic GRCh37 chr2: 175,143,352-180,999,636 , GRCh38.p12 chr2: 174,278,624-180,134,909 RNU6-5P, LOC101927073, 107 more genes
    nsv6350272copy number variation1nstd223human GRCh38 chr2: 174,704,944-174,757,170 , GRCh37.p13 chr2: 175,569,672-175,621,898 H3P6, CHRNA1
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315016copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,524,396-178,694,337 , GRCh38.p12 chr2: 170,667,886-177,829,610 LOC105373746, HAGLROS, 136 more genes
    nsv6291326copy number variation1nstd102humannot provided GRCh37 chr2: 174,631,045-177,365,790 , GRCh38.p12 chr2: 173,766,317-176,501,062 RNU6-5P, RPS15AP14, 56 more genes
    nsv6134500copy number variation1nstd213human GRCh37 chr2: 149,790,000-179,310,001 , GRCh38.p12 chr2: 148,934,069-178,445,274 , ACVR1, 394 more genes
    nsv5901938copy number variation1nstd209human GRCh38 chr2: 174,704,942-174,757,169 , GRCh37.p13 chr2: 175,569,670-175,621,897 H3P6, CHRNA1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4909716copy number variation1nstd200human GRCh38 chr2: 174,717,454-174,740,778 , GRCh37.p13 chr2: 175,582,182-175,605,506 H3P6
    nsv4909715copy number variation1nstd200human GRCh38 chr2: 174,704,944-174,757,170 , GRCh37.p13 chr2: 175,569,672-175,621,898 H3P6, CHRNA1
    nsv4909714copy number variation1nstd200human GRCh38 chr2: 174,688,961-174,740,778 , GRCh37.p13 chr2: 175,553,689-175,605,506 H3P6
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