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Items: 1 to 20 of 106

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5550089insertion1nstd206human GRCh38 chr1: 160,275,603-160,275,629 , GRCh37.p13 chr1: 160,245,393-160,245,419 PEX19
    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
    nsv5198271mobile element insertion1nstd203human GRCh38 chr1: 160,274,948-160,274,964 , GRCh37.p13 chr1: 160,244,738-160,244,754 PEX19
    nsv5078695mobile element insertion1nstd203human GRCh38 chr1: 160,275,603-160,275,629 , GRCh37.p13 chr1: 160,245,393-160,245,419 PEX19
    nsv5065326mobile element insertion1nstd203human GRCh38 chr1: 160,275,598-160,275,603 , GRCh37.p13 chr1: 160,245,388-160,245,393 PEX19
    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
    nsv4537105insertion1nstd166human GRCh37.p13 chr1: 160,245,393-160,245,393 , GRCh38.p12 chr1: 160,275,603-160,275,603 PEX19
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
    nsv4450321copy number variation1nstd102humanUncertain significance GRCh37 chr1: 159,808,188-161,011,163 , GRCh38.p12 chr1: 159,838,398-161,041,373 LOC107985216, PPIAP37, 50 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
    nsv4056369copy number variation1nstd166human GRCh37.p13 chr1: 160,254,577-160,254,831 , GRCh38.p12 chr1: 160,284,787-160,285,041 PEX19, LOC107985219
    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
    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
    nsv3906717copy number variation1nstd102humanPathogenic GRCh38 chr1: 159,479,887-166,895,086 , GRCh37 chr1: 159,449,677-166,864,323 , NCBI36 chr1: 157,716,301-165,130,947 NOS1AP, LY9, 220 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
    nsv3890224copy number variation1nstd102humanPathogenic GRCh38 chr1: 157,747,246-176,021,247 , GRCh37 chr1: 157,717,036-175,990,383 , NCBI36 chr1: 155,983,660-174,257,006 LOC101928596, KCNJ10, 475 more genes
    nsv3889882copy number variation1nstd102humanPathogenic GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847 FMO4, RPL30P1, 403 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884593copy number variation1nstd102humanPathogenic NCBI36 chr1: 157,610,062-160,185,096 , GRCh37.p13 chr1: 159,343,438-161,918,472 , GRCh38.p12 chr1: 159,373,648-161,948,682 OR10AE1P, USP21, 148 more genes
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