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Items: 1 to 20 of 143

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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
    nsv7048242inversion1nstd229human GRCh38 chr1: 202,818,087-202,819,531 , GRCh37.p13 chr1: 202,787,215-202,788,659 MGAT4EP
    nsv6675036copy number variation1nstd229human GRCh38 chr1: 202,815,810-202,823,936 , GRCh37.p13 chr1: 202,784,938-202,793,064 MGAT4EP
    nsv6662283copy number variation1nstd229human GRCh38 chr1: 202,786,930-202,940,996 , GRCh37.p13 chr1: 202,756,058-202,910,124 ACTG1P25, KLHL12, 8 more genes
    nsv6661235copy number variation1nstd229human GRCh38 chr1: 202,806,801-202,862,000 , GRCh37.p13 chr1: 202,775,929-202,831,128 MGAT4EP, PCAT6, 3 more genes
    nsv6660627copy number variation1nstd229human GRCh38 chr1: 202,586,491-202,889,939 , GRCh37.p13 chr1: 202,555,619-202,859,067 SLC25A39P1, PPP1R12B, 9 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
    nsv6290683copy number variation1nstd102humanUncertain significance GRCh37 chr1: 202,638,835-202,876,250 , GRCh38.p12 chr1: 202,669,707-202,907,122 MGAT4EP, KDM5B, 8 more genes
    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
    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
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4451601copy number variation1nstd102humanUncertain significance GRCh37 chr1: 202,575,619-202,880,256 , GRCh38.p12 chr1: 202,606,491-202,911,128 PCAT6, SLC25A39P1, 9 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
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