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Items: 1 to 20 of 131

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5417905copy number variation1nstd206human GRCh38 chr1: 156,046,282-156,047,623 , GRCh37.p13 chr1: 156,016,073-156,017,414 UBQLN4
    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
    nsv5210151copy number variation1nstd204human GRCh38.p13 chr1: 155,756,701-156,073,800 , GRCh37.p13 chr1: 155,726,492-156,043,591 , RAB25, 19 more genes
    nsv5076415mobile element insertion1nstd203human GRCh38 chr1: 156,035,171-156,035,181 , GRCh37.p13 chr1: 156,004,962-156,004,972 UBQLN4
    nsv4897578copy number variation1nstd200human GRCh38 chr1: 156,046,293-156,047,641 , GRCh37.p13 chr1: 156,016,084-156,017,432 UBQLN4
    nsv4897577copy number variation1nstd200human GRCh38 chr1: 156,037,360-156,038,108 , GRCh37.p13 chr1: 156,007,151-156,007,899 UBQLN4
    nsv4784329copy number variation1nstd200human GRCh37 chr1: 156,016,056-156,017,475 , GRCh38.p12 chr1: 156,046,265-156,047,684 UBQLN4
    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
    nsv4454859copy number variation1nstd102humanUncertain significance GRCh37 chr1: 155,922,215-156,015,659 , GRCh38.p12 chr1: 155,952,424-156,045,868 SSR2, ARHGEF2-AS1, 4 more genes
    nsv4454397copy number variation1nstd102humanUncertain significance GRCh37 chr1: 155,870,169-156,108,907 , GRCh38 chr1: 155,900,378-156,139,116 UBQLN4, SCARNA4, 15 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
    nsv4053656copy number variation1nstd166human GRCh37.p13 chr1: 156,007,151-156,007,896 , GRCh38.p12 chr1: 156,037,360-156,038,105 UBQLN4
    nsv3970541insertion1nstd168human GRCh38 chr1: 156,053,097-156,075,341 , GRCh37.p13 chr1: 156,022,888-156,045,132 LAMTOR2, UBQLN4, 2 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
    nsv3901305copy number variation1nstd102humanUncertain significance GRCh38 chr1: 155,834,419-156,434,205 , GRCh37 chr1: 155,804,210-156,403,997 , NCBI36 chr1: 154,070,834-154,670,621 RHBG, LOC100132108, 33 more genes
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