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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
    nsv5882455copy number variation1nstd209human GRCh38 chr1: 214,622,702-214,622,881 , GRCh37.p13 chr1: 214,796,045-214,796,224 CENPF
    nsv5724464mobile element insertion1nstd211human GRCh38 chr1: 214,647,394-214,647,394 , GRCh37.p13 chr1: 214,820,737-214,820,737 CENPF
    nsv5581254copy number variation1nstd207human GRCh38 chr1: 214,622,654-214,622,743 , GRCh37.p13 chr1: 214,795,997-214,796,086 CENPF
    nsv5561779mobile element insertion1nstd206human GRCh38 chr1: 214,647,404-214,647,445 , GRCh37.p13 chr1: 214,820,747-214,820,788 CENPF
    nsv5444004copy number variation1nstd206human GRCh38 chr1: 214,600,237-214,605,555 , GRCh37.p13 chr1: 214,773,580-214,778,898 ABHD17AP3, CENPF
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5296502copy number variation1nstd204human GRCh38.p13 chr1: 214,623,495-214,627,465 , GRCh37.p13 chr1: 214,796,838-214,800,808 CENPF
    nsv5204784copy number variation1nstd204human GRCh38.p13 chr1: 214,624,261-214,627,510 , GRCh37.p13 chr1: 214,797,604-214,800,853 CENPF
    nsv4904339copy number variation1nstd200human GRCh38 chr1: 214,652,073-214,667,170 , GRCh37.p13 chr1: 214,825,416-214,840,513 CENPF
    nsv4898637copy number variation1nstd200human GRCh38 chr1: 214,623,504-214,627,458 , GRCh37.p13 chr1: 214,796,847-214,800,801 CENPF
    nsv4898636copy number variation1nstd200human GRCh38 chr1: 214,615,605-214,643,867 , GRCh37.p13 chr1: 214,788,948-214,817,210 CENPF
    nsv4781444copy number variation1nstd200human GRCh37 chr1: 214,825,416-214,840,513 , GRCh38.p12 chr1: 214,652,073-214,667,170 CENPF
    nsv4774333copy number variation1nstd200human GRCh37 chr1: 214,825,669-214,826,012 , GRCh38.p12 chr1: 214,652,326-214,652,669 CENPF
    nsv4774332copy number variation1nstd200human GRCh37 chr1: 214,796,847-214,800,801 , GRCh38.p12 chr1: 214,623,504-214,627,458 CENPF
    nsv4774331copy number variation1nstd200human GRCh37 chr1: 214,773,580-214,778,898 , GRCh38.p12 chr1: 214,600,237-214,605,555 CENPF, ABHD17AP3
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4736887copy number variation1nstd199human GRCh37 chr1: 214,796,002-214,796,092 , GRCh38.p12 chr1: 214,622,659-214,622,749 CENPF
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
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