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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099256copy number variation1nstd231human GRCh38.p12 chr1: 201,916,209-203,311,623 , GRCh37 chr1: 201,885,337-203,280,751 ADORA1, CHI3L1, 49 more genes
    nsv7095955copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,522,516-206,945,780 , GRCh38.p12 chr1: 200,553,388-206,772,435 ELF3, MAPKAPK2, 189 more genes
    nsv7095569copy number variation2nstd102humanUncertain significance GRCh37 chr1: 200,522,516-208,391,267 , GRCh38.p12 chr1: 200,553,388-208,217,922 TRK-TTT8-1, ADIPOR1, 228 more genes
    nsv6661739copy number variation1nstd229human GRCh38 chr1: 202,965,342-203,020,551 , GRCh37.p13 chr1: 202,934,470-202,989,679 CYB5R1, RPS20P8, 2 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6625955copy number variation1nstd224human GRCh37 chr1: 202,920,582-202,944,639 , GRCh38.p12 chr1: 202,951,454-202,975,511 ADIPOR1, CYB5R1
    nsv6320924copy number variation1nstd223human GRCh38 chr1: 202,967,611-202,976,392 , GRCh37.p13 chr1: 202,936,739-202,945,520 CYB5R1
    nsv6258048mobile element insertion1nstd215human GRCh38 chr1: 202,961,490-202,961,490 , GRCh37.p13 chr1: 202,930,618-202,930,618 CYB5R1
    nsv6133960copy number variation1nstd213human GRCh37 chr1: 196,820,000-204,810,001 , GRCh38.p12 chr1: 196,850,870-204,840,873 ELF3, NR5A2, 181 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133842copy number variation1nstd213human GRCh37 chr1: 196,810,000-202,980,001 , GRCh38.p12 chr1: 196,840,870-203,010,873 ELF3, NR5A2, 120 more genes
    nsv6133584copy number variation1nstd213human GRCh37 chr1: 202,800,000-203,520,001 , GRCh38.p12 chr1: 202,830,872-203,550,873 ADORA1, OPTC, 29 more genes
    nsv5678389mobile element insertion2nstd211human GRCh38 chr1: 202,963,439-202,963,439 , GRCh37.p13 chr1: 202,932,567-202,932,567 CYB5R1
    nsv5677315mobile element insertion1nstd211human GRCh38 chr1: 202,961,490-202,961,490 , GRCh37.p13 chr1: 202,930,618-202,930,618 CYB5R1
    nsv5402888mobile element insertion1nstd206human GRCh38 chr1: 202,963,439-202,963,490 , GRCh37.p13 chr1: 202,932,567-202,932,618 CYB5R1
    nsv5396938mobile element insertion1nstd206human GRCh38 chr1: 202,961,490-202,961,517 , GRCh37.p13 chr1: 202,930,618-202,930,645 CYB5R1
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5071125mobile element insertion1nstd203human GRCh38 chr1: 202,961,475-202,961,490 , GRCh37.p13 chr1: 202,930,603-202,930,618 CYB5R1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
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