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Items: 1 to 20 of 280

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7046918inversion1nstd229human GRCh38 chr1: 34,689,928-38,980,899 , GRCh37.p13 chr1: 35,155,529-39,446,571 LOC105378647, NCDN, 112 more genes
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv7041936inversion1nstd229human GRCh38 chr1: 35,557,863-35,557,992 , GRCh37.p13 chr1: 36,023,464-36,023,593 KIAA0319L, NCDN
    nsv7040332inversion1nstd229human GRCh38 chr1: 34,936,903-38,057,517 , GRCh37.p13 chr1: 35,402,504-38,523,189 MAP7D1, RPL12P45, 83 more genes
    nsv6649302copy number variation1nstd229human GRCh38 chr1: 35,429,523-35,431,935 , GRCh37.p13 chr1: 35,895,124-35,897,536 KIAA0319L
    nsv6649263copy number variation1nstd229human GRCh38 chr1: 35,527,701-35,531,700 , GRCh37.p13 chr1: 35,993,302-35,997,301 KIAA0319L
    nsv6649260copy number variation1nstd229human GRCh38 chr1: 35,479,563-35,517,760 , GRCh37.p13 chr1: 35,945,164-35,983,361 LOC100419802, KIAA0319L
    nsv6649259copy number variation1nstd229human GRCh38 chr1: 35,432,383-35,432,474 , GRCh37.p13 chr1: 35,897,984-35,898,075 KIAA0319L
    nsv6649220copy number variation1nstd229human GRCh38 chr1: 35,458,875-35,458,911 , GRCh37.p13 chr1: 35,924,476-35,924,512 KIAA0319L
    nsv6648782copy number variation1nstd229human GRCh38 chr1: 35,478,821-35,479,000 , GRCh37.p13 chr1: 35,944,422-35,944,601 KIAA0319L
    nsv6636592copy number variation1nstd102humanPathogenic GRCh37 chr1: 35,104,233-37,357,913 , GRCh38.p12 chr1: 34,638,632-36,892,312 EFCAB14P1, SNORA63C, 56 more genes
    nsv6555430inversion1nstd223human GRCh38 chr1: 35,551,323-35,552,353 , GRCh37.p13 chr1: 36,016,924-36,017,954 KIAA0319L
    nsv6554928inversion1nstd223human GRCh38 chr1: 35,502,000-35,504,186 , GRCh37.p13 chr1: 35,967,601-35,969,787 KIAA0319L
    nsv6550069inversion1nstd223human GRCh38 chr1: 35,510,752-35,512,180 , GRCh37.p13 chr1: 35,976,353-35,977,781 LOC100419802, KIAA0319L
    nsv6547664inversion1nstd223human GRCh38 chr1: 35,469,911-35,470,475 , GRCh37.p13 chr1: 35,935,512-35,936,076 KIAA0319L
    nsv6542408inversion1nstd223human GRCh38 chr1: 35,521,689-35,522,367 , GRCh37.p13 chr1: 35,987,290-35,987,968 KIAA0319L
    nsv6541604inversion1nstd223human GRCh38 chr1: 35,510,714-35,512,288 , GRCh37.p13 chr1: 35,976,315-35,977,889 KIAA0319L, LOC100419802
    nsv6321609copy number variation1nstd223human GRCh38 chr1: 35,445,321-35,446,023 , GRCh37.p13 chr1: 35,910,922-35,911,624 KIAA0319L
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
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