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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
    nsv5953482insertion1nstd209human GRCh38 chr1: 157,274,151-157,274,151 , GRCh37.p13 chr1: 157,243,941-157,243,941 LINC02772, LOC105371456
    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
    nsv4903935copy number variation1nstd200human GRCh38 chr1: 157,241,059-157,394,876 , GRCh37.p13 chr1: 157,210,849-157,364,666 LOC101928202, LINC02772, 1 more genes
    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
    nsv4593988copy number variation1nstd183human GRCh37 chr1: 157,211,454-157,362,490 , GRCh38.p12 chr1: 157,241,664-157,392,700 LOC101928202, LOC105371456, 1 more genes
    nsv4404815copy number variation1nstd174human GRCh37 chr1: 157,216,809-157,244,089 , GRCh38.p12 chr1: 157,247,019-157,274,299 LINC02772, LOC105371456
    nsv4331237sequence alteration1nstd166human GRCh37.p13 chr1: 157,231,970-157,244,176 , GRCh38.p12 chr1: 157,262,180-157,274,386 LINC02772, LOC105371456
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4068826copy number variation1nstd166human GRCh37.p13 chr1: 157,196,970-157,322,399 , GRCh38.p12 chr1: 157,227,180-157,352,609 LOC101928202, LINC02772, 1 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
    nsv3918414copy number variation1nstd102humanUncertain significance NCBI36 chr1: 155,461,594-155,641,152 , GRCh37.p13 chr1: 157,194,970-157,374,528 , GRCh38.p12 chr1: 157,225,180-157,404,738 LINC02772, LOC105371456, 1 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
    nsv3897993copy number variation1nstd102humanBenign NCBI36 chr1: 155,496,679-155,618,139 , GRCh38 chr1: 157,260,265-157,381,725 , GRCh37 chr1: 157,230,055-157,351,515 LOC101928202, LINC02772, 1 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3882925copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,636,337-158,024,499 , GRCh38.p12 chr1: 155,666,546-158,054,709 SH2D2A, LRRC71, 88 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
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