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Items: 1 to 20 of 173

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5950931insertion1nstd209human GRCh38 chr1: 168,410,456-168,410,456 , GRCh37.p13 chr1: 168,379,694-168,379,694 LOC100505918
    nsv5607825insertion1nstd207human GRCh38 chr1: 168,410,456-168,410,456 , GRCh37.p13 chr1: 168,379,694-168,379,694 LOC100505918
    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
    nsv5069802mobile element insertion1nstd203human GRCh38 chr1: 168,414,003-168,414,077 , GRCh37.p13 chr1: 168,383,241-168,383,315 LOC100505918
    nsv5041452inversion1nstd200human GRCh38 chr1: 163,441,139-169,028,376 , GRCh37.p13 chr1: 163,410,929-168,997,614 , RPS17P6, 97 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4758613insertion1nstd199human GRCh37 chr1: 168,379,690-168,379,690 , GRCh38.p12 chr1: 168,410,452-168,410,452 LOC100505918
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728711copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 164,608,682-169,216,098 , GRCh38.p12 chr1: 164,639,445-169,246,860 ALDH9A1, ATP1B1, 95 more genes
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4453493copy number variation1nstd102humanPathogenic GRCh37 chr1: 163,093,021-168,991,239 , GRCh38.p12 chr1: 163,123,231-169,022,001 RNU6-755P, GCSHP5, 101 more genes
    nsv4448388delins1nstd175human GRCh37 chr1: 168,379,694-168,379,705 , GRCh38.p12 chr1: 168,410,456-168,410,467 LOC100505918
    nsv4371136copy number variation1nstd173human GRCh37 chr1: 167,491,881-168,643,013 , GRCh38.p12 chr1: 167,522,644-168,673,775 RPL7AP21, RCSD1, 29 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 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
    nsv4068525copy number variation1nstd166human GRCh37.p13 chr1: 168,359,324-168,369,763 , GRCh38.p12 chr1: 168,390,086-168,400,525 LOC100505918
    nsv4055057copy number variation1nstd166human GRCh37.p13 chr1: 168,376,148-168,384,121 , GRCh38.p12 chr1: 168,406,910-168,414,883 LOC100505918
    nsv3956985insertion1nstd168human GRCh38 chr1: 168,364,497-168,504,256 , GRCh37.p13 chr1: 168,333,735-168,473,494 LOC441914, MIR557, 3 more genes
    nsv3941213insertion1nstd167human GRCh37 chr1: 168,379,694-168,379,694 , GRCh38.p12 chr1: 168,410,456-168,410,456 LOC100505918
    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
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