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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5680551mobile element insertion1nstd211human GRCh38 chr1: 154,969,763-154,969,763 , GRCh37.p13 chr1: 154,942,239-154,942,239 SHC1
    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
    nsv4897513copy number variation1nstd200human GRCh38 chr1: 154,972,139-154,973,349 , GRCh37.p13 chr1: 154,944,615-154,945,825 CKS1B, SHC1
    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
    nsv4728074copy number variation1nstd197human GRCh38.p12 chr1: 154,968,205-154,970,526 , GRCh37 chr1: 154,940,681-154,943,002 SHC1
    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
    nsv4066725copy number variation1nstd166human GRCh37.p13 chr1: 154,912,000-154,974,000 , GRCh38.p12 chr1: 154,939,524-155,001,524 SHC1, CKS1B, 8 more genes
    nsv4054543copy number variation1nstd166human GRCh37.p13 chr1: 154,942,000-154,963,000 , GRCh38.p12 chr1: 154,969,524-154,990,524 SHC1, CKS1B, 2 more genes
    nsv4053204copy number variation1nstd166human GRCh37.p13 chr1: 154,933,169-154,933,222 , GRCh38.p12 chr1: 154,960,693-154,960,746 PYGO2, PYGO2-AS1, 1 more genes
    nsv4052679copy number variation1nstd166human GRCh37.p13 chr1: 154,943,000-154,953,000 , GRCh38.p12 chr1: 154,970,524-154,980,524 CKS1B, SHC1, 1 more genes
    nsv3970047insertion1nstd168human GRCh38 chr1: 154,973,888-154,995,110 , GRCh37.p13 chr1: 154,946,364-154,967,586 CKS1B, SHC1, 3 more genes
    nsv3962225copy number variation1nstd168human GRCh38 chr1: 154,951,525-154,973,888 , GRCh37.p13 chr1: 154,924,001-154,946,364 CKS1B, SHC1, 4 more genes
    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
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