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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5606442insertion1nstd207human GRCh38 chr1: 156,895,955-156,895,955 , GRCh37.p13 chr1: 156,865,747-156,865,747 PEAR1
    nsv5427168copy number variation1nstd206human GRCh38 chr1: 156,892,730-156,892,813 , GRCh37.p13 chr1: 156,862,522-156,862,605 PEAR1
    nsv5415625copy number variation1nstd206human GRCh38 chr1: 156,896,418-156,898,137 , GRCh37.p13 chr1: 156,866,210-156,867,929 PEAR1
    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
    nsv4903934copy number variation1nstd200human GRCh38 chr1: 156,916,769-156,917,859 , GRCh37.p13 chr1: 156,886,561-156,887,651 PEAR1
    nsv4903933copy number variation1nstd200human GRCh38 chr1: 156,904,114-156,904,414 , GRCh37.p13 chr1: 156,873,906-156,874,206 PEAR1
    nsv4903932copy number variation1nstd200human GRCh38 chr1: 156,896,305-156,898,226 , GRCh37.p13 chr1: 156,866,097-156,868,018 PEAR1
    nsv4897609copy number variation1nstd200human GRCh38 chr1: 156,896,446-156,898,111 , GRCh37.p13 chr1: 156,866,238-156,867,903 PEAR1
    nsv4897608copy number variation1nstd200human GRCh38 chr1: 156,895,614-156,896,530 , GRCh37.p13 chr1: 156,865,406-156,866,322 PEAR1
    nsv4781221copy number variation1nstd200human GRCh37 chr1: 156,866,097-156,868,018 , GRCh38.p12 chr1: 156,896,305-156,898,226 PEAR1
    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
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4068766copy number variation1nstd166human GRCh37.p13 chr1: 156,873,906-156,874,206 , GRCh38.p12 chr1: 156,904,114-156,904,414 PEAR1
    nsv4058161copy number variation1nstd166human GRCh37.p13 chr1: 156,862,522-156,862,605 , GRCh38.p12 chr1: 156,892,730-156,892,813 PEAR1
    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
    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
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
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