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Items: 1 to 20 of 202

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5922687copy number variation1nstd209human GRCh38 chr8: 26,384,273-26,387,272 , GRCh37.p13 chr8: 26,241,789-26,244,788 BNIP3L
    nsv5919322copy number variation1nstd209human GRCh38 chr8: 26,409,030-26,409,606 , GRCh37.p13 chr8: 26,266,546-26,267,122 BNIP3L
    nsv5850405copy number variation1nstd209human GRCh38 chr8: 26,384,768-26,387,292 , GRCh37.p13 chr8: 26,242,284-26,244,808 BNIP3L
    nsv5354002translocation1nstd200human GRCh38 chr12: 111,088,735-111,088,735 , GRCh38 chr8: 26,383,007-26,383,007 , GRCh37.p13 chr12: 111,526,539-111,526,539 , GRCh37.p13 chr8: 26,240,523-26,240,523 BNIP3L, CUX2, 1 more genes
    nsv5200364copy number variation1nstd102humanPathogenic GRCh37 chr8: 176,814-43,396,776 , GRCh38.p12 chr8: 226,814-43,541,633 LOC100130612, XPO7, 770 more genes
    nsv5116601mobile element insertion1nstd203human GRCh38 chr8: 26,382,553-26,382,565 , GRCh37.p13 chr8: 26,240,069-26,240,081 SDAD1P1, BNIP3L
    nsv5114716mobile element insertion1nstd203human GRCh38 chr8: 26,382,549-26,382,565 , GRCh37.p13 chr8: 26,240,065-26,240,081 SDAD1P1, BNIP3L
    nsv4954281copy number variation1nstd200human GRCh38 chr8: 26,338,878-26,388,776 , GRCh37.p13 chr8: 26,196,394-26,246,292 PPP2R2A, BNIP3L, 1 more genes
    nsv4768211inversion1nstd199human GRCh37 chr8: 23,474,464-53,327,098 , GRCh38.p12 chr8: 23,616,951-52,414,538 , ADRA1A, 411 more genes
    nsv4756879inversion1nstd199human GRCh37 chr8: 23,474,453-53,323,933 , GRCh38.p12 chr8: 23,616,940-52,411,373 , ADRA1A, 411 more genes
    nsv4728911copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 12,528,482-29,886,483 , GRCh38.p12 chr8: 12,670,973-30,028,967 NAT1, NAT2, 272 more genes
    nsv4675292copy number variation1nstd102humanPathogenic GRCh37 chr8: 24,305,969-28,673,405 , GRCh38.p12 chr8: 24,448,456-28,815,888 LOC112268023, GNRH1, 79 more genes
    nsv4455606copy number variation1nstd102humanPathogenic GRCh37 chr8: 22,442,548-27,369,334 , GRCh38.p12 chr8: 22,585,035-27,511,817 PPP2R2A, LOC102723395, 91 more genes
    nsv4375396copy number variation1nstd173human GRCh37 chr8: 25,820,075-27,117,359 , GRCh38.p12 chr8: 25,962,559-27,259,842 , RPLP1P9, 20 more genes
    nsv4349554copy number variation2nstd102humanPathogenic GRCh37 chr8: 158,048-146,295,771 , GRCh38.p12 chr8: 208,048-145,070,385 LOC101929488, TEX15, 2105 more genes
    nsv4348018copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 12,546,855-35,816,855 , GRCh38.p12 chr8: 12,689,346-35,959,337 NAT1, NAT2, 343 more genes
    nsv4164407copy number variation1nstd166human GRCh37.p13 chr8: 26,239,383-26,239,826 , GRCh38.p12 chr8: 26,381,867-26,382,310 SDAD1P1, BNIP3L
    nsv3972390copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 12,556,004-34,374,150 , GRCh38.p12 chr8: 12,698,495-34,516,632 NAT1, NAT2, 335 more genes
    nsv3961150inversion1nstd168human GRCh38 chr8: 24,915,245-27,000,696 , GRCh37.p13 chr8: 24,772,758-26,858,213 , ADRA1A, 32 more genes
    nsv3957753inversion1nstd168human GRCh38 chr8: 24,908,929-26,870,043 , GRCh37.p13 chr8: 24,766,442-26,727,560 , ADRA1A, 30 more genes
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