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Items: 1 to 20 of 219

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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
    nsv7093114copy number variation1nstd102humanPathogenic GRCh37 chr2: 175,619,084-175,619,205 , GRCh38 chr2: 174,754,356-174,754,477 CHRNA1
    nsv7049124inversion1nstd229human GRCh38 chr2: 174,401,435-175,981,960 , GRCh37.p13 chr2: 175,266,163-176,846,688 LNPK, RNU7-44P, 19 more genes
    nsv6690819copy number variation1nstd229human GRCh38 chr2: 174,704,944-174,757,173 , GRCh37.p13 chr2: 175,569,672-175,621,901 H3P6, CHRNA1
    nsv6689432copy number variation1nstd229human GRCh38 chr2: 174,757,130-174,761,771 , GRCh37.p13 chr2: 175,621,858-175,626,499 CHRNA1
    nsv6688900copy number variation1nstd229human GRCh38 chr2: 174,739,815-174,765,869 , GRCh37.p13 chr2: 175,604,543-175,630,597 CHRNA1
    nsv6687483copy number variation1nstd229human GRCh38 chr2: 174,752,336-174,755,257 , GRCh37.p13 chr2: 175,617,064-175,619,985 CHRNA1
    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
    nsv6341517copy number variation1nstd223human GRCh38 chr2: 174,761,445-174,761,969 , GRCh37.p13 chr2: 175,626,173-175,626,697 CHRNA1
    nsv6337450copy number variation1nstd223human GRCh38 chr2: 174,738,747-174,769,722 , GRCh37.p13 chr2: 175,603,475-175,634,450 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
    nsv6311469copy number variation1nstd102humanPathogenic GRCh37 chr2: 175,612,852-175,629,122 , GRCh38.p12 chr2: 174,748,124-174,764,394 CHRNA1
    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
    nsv5673212copy number variation1nstd102humanPathogenic GRCh37 chr2: 175,612,832-175,619,162 , GRCh38.p12 chr2: 174,748,104-174,754,434 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
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