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Items: 1 to 20 of 12622

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137792copy number variation2nstd102humanBenign, Likely benign GRCh38 chr7: 74,059,907-74,059,960 , GRCh37 chr7: 73,474,237-73,474,290 ELN-AS1, ELN
    nsv6137736copy number variation1nstd102humanPathogenic GRCh37 chrX: 153,263,517-155,260,560 , GRCh38.p12 chrX: 153,998,066-156,030,895 H2AB3, GDI1, 83 more genes
    nsv6137735copy number variation1nstd102humanPathogenic GRCh37 chrX: 153,194,251-153,623,000 , GRCh38.p12 chrX: 153,928,798-154,394,658 EMD, MIR3202-1, 20 more genes
    nsv6131470insertion1nstd186human GRCh37 chr19: 41,849,848-41,849,872 , GRCh38.p12 chr19: 41,343,943-41,343,967 TGFB1
    nsv6130675insertion1nstd186human GRCh37 chr20: 55,793,971-55,793,971 , GRCh38.p12 chr20: 57,218,915-57,218,915 BMP7
    nsv6130243insertion1nstd186human GRCh37 chr12: 102,799,045-102,799,080 , GRCh38.p12 chr12: 102,405,267-102,405,302 IGF1, LINC02456
    nsv6123177copy number variation1nstd186human GRCh37 chr13: 113,421,142-113,421,394 , GRCh38.p12 chr13: 112,766,828-112,767,080 ATP11A
    nsv6122828copy number variation1nstd186human GRCh37 chr13: 113,499,171-113,500,085 , GRCh38.p12 chr13: 112,844,857-112,845,771 ATP11A
    nsv6122690copy number variation1nstd186human GRCh37 chr13: 113,421,433-113,421,794 , GRCh38.p12 chr13: 112,767,119-112,767,480 ATP11A
    nsv6122558copy number variation1nstd186human GRCh37 chr13: 113,517,141-113,517,733 , GRCh38.p12 chr13: 112,862,827-112,863,419 ATP11A
    nsv6122456copy number variation1nstd186human GRCh37 chr13: 113,458,041-113,458,612 , GRCh38.p12 chr13: 112,803,727-112,804,298 ATP11A
    nsv6122280copy number variation1nstd186human GRCh37 chr13: 113,499,116-113,499,172 , GRCh38.p12 chr13: 112,844,802-112,844,858 ATP11A
    nsv6120564copy number variation1nstd186human GRCh37 chr13: 113,518,040-113,519,177 , GRCh38.p12 chr13: 112,863,726-112,864,863 ATP11A
    nsv6120330copy number variation1nstd186human GRCh37 chr5: 141,976,241-141,976,343 , GRCh38.p12 chr5: 142,596,676-142,596,778 FGF1
    nsv6120327copy number variation1nstd186human GRCh37 chr5: 1,273,248-1,273,905 , GRCh38.p12 chr5: 1,273,133-1,273,790 TERT
    nsv6112802copy number variation1nstd102humanPathogenic GRCh37 chr18: 23,626,739-78,014,976 , GRCh38.p12 chr18: 26,046,775-80,257,093 RPL9P31, LINC02582, 595 more genes
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 LINC01742, MTCO2P1, 253 more genes
    nsv6112754copy number variation1nstd102humanPathogenic GRCh37 chr4: 131,303,317-168,722,402 , GRCh38.p12 chr4: 130,382,162-167,801,251 MIR3139, CLGN, 407 more genes
    nsv6112732copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,200-4,012,072 , GRCh38.p12 chr5: 13,200-4,011,958 SLC9A3-AS1, LOC107984098, 76 more genes
    nsv6112721copy number variation1nstd102humanPathogenic GRCh37 chrX: 47,179,068-54,424,785 , GRCh38.p12 chrX: 47,319,669-54,398,352 SNORA11E, SSX11P, 229 more genes
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