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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7137268insertion1nstd232human GRCh37.p13 chr1: 230,467,786-230,467,786 , GRCh38.p12 chr1: 230,332,040-230,332,040 PGBD5
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7095591copy number variation2nstd102humanPathogenic GRCh37 chr1: 230,203,028-231,413,288 , GRCh38.p12 chr1: 230,067,281-231,277,542 CAPN9, TRIM67-AS1, 25 more genes
    nsv7095514copy number variation1nstd102humanPathogenic GRCh37 chr1: 229,567,246-231,413,288 , GRCh38.p12 chr1: 229,431,499-231,277,542 NUP133-DT, URB2, 42 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7056408inversion1nstd229human GRCh38 chr1: 229,713,690-230,314,539 , GRCh37.p13 chr1: 229,849,437-230,450,285 LOC105373161, LOC107985464, 6 more genes
    nsv7054178inversion1nstd229human GRCh38 chr1: 230,105,425-230,665,778 , GRCh37.p13 chr1: 230,241,172-230,801,524 GALNT2, LOC105373165, 6 more genes
    nsv7049909inversion1nstd229human GRCh38 chr1: 230,180,859-230,429,254 , GRCh37.p13 chr1: 230,316,605-230,565,000 GALNT2, PGBD5
    nsv7047279inversion1nstd229human GRCh38 chr1: 230,158,198-230,442,952 , GRCh37.p13 chr1: 230,293,945-230,578,698 PGBD5, GALNT2
    nsv7042899inversion1nstd229human GRCh38 chr1: 228,807,456-232,597,605 , GRCh37.p13 chr1: 228,943,203-232,733,351 LOC102723935, LOC107985357, 73 more genes
    nsv6677809copy number variation1nstd229human GRCh38 chr1: 230,332,854-230,333,051 , GRCh37.p13 chr1: 230,468,600-230,468,797 PGBD5
    nsv6676389copy number variation1nstd229human GRCh38 chr1: 230,381,992-230,382,092 , GRCh37.p13 chr1: 230,517,738-230,517,838 PGBD5
    nsv6675827copy number variation1nstd229human GRCh38 chr1: 230,408,298-230,408,325 , GRCh37.p13 chr1: 230,544,044-230,544,071 PGBD5
    nsv6675240copy number variation1nstd229human GRCh38 chr1: 230,362,978-230,366,201 , GRCh37.p13 chr1: 230,498,724-230,501,947 PGBD5
    nsv6674508copy number variation1nstd229human GRCh38 chr1: 230,312,697-230,317,175 , GRCh37.p13 chr1: 230,448,443-230,452,921 PGBD5
    nsv6672577copy number variation1nstd229human GRCh38 chr1: 230,202,633-230,324,002 , GRCh37.p13 chr1: 230,338,379-230,459,748 GALNT2, PGBD5
    nsv6672276copy number variation1nstd229human GRCh38 chr1: 230,306,223-230,313,781 , GRCh37.p13 chr1: 230,441,969-230,449,527 PGBD5
    nsv6670489copy number variation1nstd229human GRCh38 chr1: 227,575,489-231,747,964 , GRCh37.p13 chr1: 227,763,190-231,883,710 FAM89A, RNA5S14, 127 more genes
    nsv6670228copy number variation1nstd229human GRCh38 chr1: 230,400,707-230,401,146 , GRCh37.p13 chr1: 230,536,453-230,536,892 PGBD5
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