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Items: 1 to 20 of 949

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143193insertion1nstd232human GRCh37.p13 chr1: 39,700,208-39,700,208 , GRCh38.p12 chr1: 39,234,536-39,234,536 MACF1
    nsv7141197copy number variation1nstd232human GRCh37.p13 chr1: 39,700,225-39,700,318 , GRCh38.p12 chr1: 39,234,553-39,234,646 MACF1
    nsv7138604copy number variation1nstd232human GRCh37.p13 chr1: 39,907,723-39,907,815 , GRCh38.p12 chr1: 39,442,051-39,442,143 MACF1
    nsv7099194copy number variation1nstd231human GRCh38.p12 chr1: 39,146,492-41,396,453 , GRCh37 chr1: 39,612,164-41,862,125 BMP8B, COL9A2, 65 more genes
    nsv7057906inversion1nstd229human GRCh38 chr1: 39,433,831-39,498,263 , GRCh37.p13 chr1: 39,899,503-39,963,935 MACF1, BMP8A
    nsv7052350inversion1nstd229human GRCh38 chr1: 39,475,769-39,791,589 , GRCh37.p13 chr1: 39,941,441-40,257,261 HPCAL4, BMP8A, 16 more genes
    nsv7045711inversion1nstd229human GRCh38 chr1: 39,159,235-39,159,378 , GRCh37.p13 chr1: 39,624,907-39,625,050 MACF1
    nsv7045292inversion1nstd229human GRCh38 chr1: 39,313,245-39,313,262 , GRCh37.p13 chr1: 39,778,917-39,778,934 MACF1
    nsv6649850copy number variation1nstd229human GRCh38 chr1: 39,481,028-39,484,598 , GRCh37.p13 chr1: 39,946,700-39,950,270 MACF1
    nsv6649848copy number variation1nstd229human GRCh38 chr1: 39,292,044-39,325,607 , GRCh37.p13 chr1: 39,757,716-39,791,279 HSPE1P8, MACF1
    nsv6649847copy number variation1nstd229human GRCh38 chr1: 39,288,472-39,290,908 , GRCh37.p13 chr1: 39,754,144-39,756,580 MACF1
    nsv6649846copy number variation1nstd229human GRCh38 chr1: 39,282,243-39,282,648 , GRCh37.p13 chr1: 39,747,915-39,748,320 MACF1
    nsv6649845copy number variation1nstd229human GRCh38 chr1: 39,259,552-39,260,559 , GRCh37.p13 chr1: 39,725,224-39,726,231 MACF1
    nsv6649843copy number variation1nstd229human GRCh38 chr1: 39,211,546-39,225,496 , GRCh37.p13 chr1: 39,677,218-39,691,168 MACF1
    nsv6649841copy number variation1nstd229human GRCh38 chr1: 39,086,544-39,135,277 , GRCh37.p13 chr1: 39,552,216-39,600,949 RNU6-608P, MACF1
    nsv6649836copy number variation1nstd229human GRCh38 chr1: 39,034,987-39,477,333 , GRCh37.p13 chr1: 39,500,659-39,943,005 NDUFS5, HSPE1P8, 3 more genes
    nsv6649785copy number variation1nstd229human GRCh38 chr1: 39,427,501-39,446,300 , GRCh37.p13 chr1: 39,893,173-39,911,972 MACF1
    nsv6649784copy number variation1nstd229human GRCh38 chr1: 39,424,301-39,429,300 , GRCh37.p13 chr1: 39,889,973-39,894,972 MACF1
    nsv6649783copy number variation1nstd229human GRCh38 chr1: 39,394,295-39,408,787 , GRCh37.p13 chr1: 39,859,967-39,874,459 MACF1
    nsv6649782copy number variation1nstd229human GRCh38 chr1: 39,383,076-39,391,067 , GRCh37.p13 chr1: 39,848,748-39,856,739 MACF1
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