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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5423972copy number variation1nstd206human GRCh38 chr1: 155,047,651-155,175,025 , GRCh37.p13 chr1: 155,020,127-155,147,501 DCST1, EFNA4, 9 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
    nsv5211686copy number variation1nstd204human GRCh38.p13 chr1: 153,974,901-155,189,600 , GRCh37.p13 chr1: 153,947,377-155,161,231 JTB, PYGO2-AS1, 56 more genes
    nsv5203279copy number variation1nstd204human GRCh38.p13 chr1: 154,942,701-155,189,300 , GRCh37.p13 chr1: 154,915,177-155,160,979 MUC1, MIR4258, 21 more genes
    nsv4903909copy number variation1nstd200human GRCh38 chr1: 155,080,703-155,146,082 , GRCh37.p13 chr1: 155,053,179-155,118,558 EFNA1, SLC50A1, 2 more genes
    nsv4897516copy number variation1nstd200human GRCh38 chr1: 155,087,912-155,101,834 , GRCh37.p13 chr1: 155,060,388-155,074,310 EFNA3
    nsv4897515copy number variation1nstd200human GRCh38 chr1: 155,080,523-155,081,017 , GRCh37.p13 chr1: 155,052,999-155,053,493 EFNA3
    nsv4784290copy number variation1nstd200human GRCh37 chr1: 155,060,388-155,074,310 , GRCh38.p12 chr1: 155,087,912-155,101,834 EFNA3
    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
    nsv4673954copy number variation1nstd102humanUncertain significance GRCh37 chr1: 154,898,854-155,242,457 , GRCh38.p12 chr1: 154,926,378-155,272,666 GBA1LP, PBXIP1, 31 more genes
    nsv4370099copy number variation2nstd173human GRCh37 chr1: 155,017,823-155,211,654 , GRCh38.p12 chr1: 155,045,347-155,241,863 THBS3, ADAM15, 17 more genes
    nsv4065512copy number variation1nstd166human GRCh37.p13 chr1: 155,052,874-155,053,562 , GRCh38.p12 chr1: 155,080,398-155,081,086 EFNA3
    nsv4063759copy number variation1nstd166human GRCh37.p13 chr1: 155,060,388-155,074,310 , GRCh38.p12 chr1: 155,087,912-155,101,834 EFNA3
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3917016copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 SMU1P1, LOC100419798, 152 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3909898inversion1nstd102humanLikely pathogenic GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877 ADAR, BGLAP, 136 more genes
    nsv3906950copy number variation1nstd102humanPathogenic GRCh38 chr1: 154,566,501-157,624,084 , NCBI36 chr1: 152,805,601-155,860,498 , GRCh37 chr1: 154,538,977-157,593,874 ARHGEF2-AS2, INSRR, 131 more genes
    nsv3906070copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,814,789-153,529,316 , GRCh37 chr1: 154,548,165-155,262,692 , GRCh38 chr1: 154,575,689-155,292,901 PBXIP1, ZBTB7B, 37 more genes
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