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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099204copy number variation1nstd231human GRCh38.p12 chr1: 51,433,462-53,162,521 , GRCh37 chr1: 51,899,134-53,628,193 EPS15, GPX7, 53 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv6651652copy number variation1nstd229human GRCh38 chr1: 52,601,770-52,607,462 , GRCh37.p13 chr1: 53,067,442-53,073,134 GPX7
    nsv6651651copy number variation1nstd229human GRCh38 chr1: 52,594,301-52,825,900 , GRCh37.p13 chr1: 53,059,973-53,291,572 RNU6-969P, SHISAL2A, 7 more genes
    nsv6651650copy number variation1nstd229human GRCh38 chr1: 52,578,201-52,641,700 , GRCh37.p13 chr1: 53,043,873-53,107,372 GPX7, SHISAL2A
    nsv6651431copy number variation1nstd229human GRCh38 chr1: 52,609,001-52,611,400 , GRCh37.p13 chr1: 53,074,673-53,077,072 GPX7
    nsv6651430copy number variation1nstd229human GRCh38 chr1: 52,607,713-52,617,108 , GRCh37.p13 chr1: 53,073,385-53,082,780 GPX7
    nsv6650898copy number variation1nstd229human GRCh38 chr1: 52,604,458-52,607,461 , GRCh37.p13 chr1: 53,070,130-53,073,133 GPX7
    nsv6650897copy number variation1nstd229human GRCh38 chr1: 52,591,278-52,622,050 , GRCh37.p13 chr1: 53,056,950-53,087,722 GPX7
    nsv6638064copy number variation1nstd102humanassociation GRCh38 chr1: 48,666,286-52,808,894 , GRCh37.p13 chr1: 49,131,958-53,274,566 LOC105378710, RNU6-1026P, 80 more genes
    nsv6319034copy number variation1nstd223human GRCh38 chr1: 52,601,501-52,603,100 , GRCh37.p13 chr1: 53,067,173-53,068,772 GPX7
    nsv6319002copy number variation1nstd223human GRCh38 chr1: 52,607,713-52,617,105 , GRCh37.p13 chr1: 53,073,385-53,082,777 GPX7
    nsv6133775copy number variation1nstd213human GRCh37 chr1: 50,680,000-53,460,001 , GRCh38.p12 chr1: 50,214,328-52,994,329 CDKN2C, EPS15, 76 more genes
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5351933translocation1nstd200human GRCh38 chr1: 52,617,105-52,617,105 , GRCh38 chr1: 52,607,713-52,607,713 , GRCh37.p13 chr1: 53,082,777-53,082,777 , GRCh37.p13 chr1: 53,073,385-53,073,385 GPX7
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783238copy number variation1nstd200human GRCh37 chr1: 53,073,385-53,082,777 , GRCh38.p12 chr1: 52,607,713-52,617,105 GPX7
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
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