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Items: 1 to 20 of 148

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv5295917copy number variation1nstd204human GRCh37.p13 chr1: 156,469,049-156,626,622 , GRCh38.p13 chr1: 156,499,257-156,656,830 MEF2D, GPATCH4, 7 more genes
    nsv5203696copy number variation1nstd204human GRCh38.p13 chr1: 156,499,181-156,552,004 , GRCh37.p13 chr1: 156,468,973-156,521,796 MEF2D, IQGAP3
    nsv5200956copy number variation1nstd204human GRCh38.p13 chr1: 156,499,201-156,556,900 , GRCh37.p13 chr1: 156,468,993-156,526,692 MEF2D, IQGAP3
    nsv5071998mobile element insertion1nstd203human GRCh38 chr1: 156,469,875-156,469,891 , GRCh37.p13 chr1: 156,439,667-156,439,683 MEF2D
    nsv4903928copy number variation1nstd200human GRCh38 chr1: 156,440,516-156,469,054 , GRCh37.p13 chr1: 156,410,308-156,438,846 MEF2D, MIR9-1HG
    nsv4781219copy number variation1nstd200human GRCh37 chr1: 156,410,308-156,438,846 , GRCh38.p12 chr1: 156,440,516-156,469,054 MIR9-1HG, MEF2D
    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
    nsv4517745copy number variation1nstd166human GRCh37.p13 chr1: 156,442,811-156,442,861 , GRCh38.p12 chr1: 156,473,019-156,473,069 MEF2D
    nsv4452451copy number variation1nstd102humanUncertain significance GRCh37 chr1: 156,037,369-156,463,980 , GRCh38.p12 chr1: 156,067,578-156,494,188 MIR9-1HG, TSACC, 17 more genes
    nsv4452342copy number variation1nstd102humanUncertain significance GRCh37 chr1: 155,770,505-156,652,136 , GRCh38.p12 chr1: 155,800,714-156,682,344 NES, SNORA80E, 43 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4070435copy number variation1nstd166human GRCh37.p13 chr1: 156,439,292-156,442,743 , GRCh38.p12 chr1: 156,469,500-156,472,951 MEF2D
    nsv4066686copy number variation1nstd166human GRCh37.p13 chr1: 156,467,500-156,475,000 , GRCh38.p12 chr1: 156,497,708-156,505,208 MEF2D
    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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