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Items: 1 to 20 of 331

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5962339insertion1nstd209human GRCh38 chr8: 132,674,147-132,674,147 , GRCh37.p13 chr8: 133,686,393-133,686,393 DNAAF11, LOC105375767
    nsv5912093copy number variation1nstd209human GRCh38 chr8: 132,561,032-132,570,197 , GRCh37.p13 chr8: 133,573,279-133,582,445 DNAAF11, HPYR1
    nsv5865999copy number variation1nstd209human GRCh38 chr8: 132,561,021-132,570,100 , GRCh37.p13 chr8: 133,573,268-133,582,348 HPYR1, DNAAF11
    nsv5673946copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 133,584,534-133,584,748 , GRCh38.p12 chr8: 132,572,286-132,572,500 DNAAF11
    nsv5673945copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr8: 133,141,509-134,296,554 , GRCh38.p12 chr8: 132,129,262-133,284,311 SLA, TMEM71, 15 more genes
    nsv5643893insertion1nstd207human GRCh38 chr8: 132,674,123-132,674,123 , GRCh37.p13 chr8: 133,686,369-133,686,369 LOC105375767, DNAAF11
    nsv5492206copy number variation1nstd206human GRCh38 chr8: 132,646,222-132,654,222 , GRCh37.p13 chr8: 133,658,468-133,666,468 DNAAF11
    nsv5491062copy number variation1nstd206human GRCh38 chr8: 132,604,668-132,613,549 , GRCh37.p13 chr8: 133,616,914-133,625,795 DNAAF11
    nsv5480239copy number variation1nstd206human GRCh38 chr8: 132,589,296-132,589,366 , GRCh37.p13 chr8: 133,601,543-133,601,613 DNAAF11
    nsv5479594copy number variation1nstd206human GRCh38 chr8: 132,544,216-132,574,422 , GRCh37.p13 chr8: 133,556,463-133,586,670 HPYR1, DNAAF11
    nsv5197864mobile element insertion1nstd203human GRCh38 chr8: 132,625,480-132,625,492 , GRCh37.p13 chr8: 133,637,726-133,637,738 DNAAF11
    nsv5196350mobile element insertion1nstd203human GRCh38 chr8: 132,625,478-132,625,492 , GRCh37.p13 chr8: 133,637,724-133,637,738 DNAAF11
    nsv5107760mobile element insertion1nstd203human GRCh38 chr8: 132,599,559-132,599,573 , GRCh37.p13 chr8: 133,611,805-133,611,819 DNAAF11
    nsv5103033mobile element insertion1nstd203human GRCh38 chr8: 132,640,093-132,640,106 , GRCh37.p13 chr8: 133,652,339-133,652,352 DNAAF11
    nsv4962252copy number variation1nstd200human GRCh38 chr8: 132,602,716-132,602,786 , GRCh37.p13 chr8: 133,614,962-133,615,032 DNAAF11
    nsv4962251copy number variation1nstd200human GRCh38 chr8: 132,589,296-132,589,366 , GRCh37.p13 chr8: 133,601,543-133,601,613 DNAAF11
    nsv4813578copy number variation1nstd200human GRCh37 chr8: 133,592,443-133,595,264 , GRCh38.p12 chr8: 132,580,196-132,583,017 DNAAF11
    nsv4729309copy number variation1nstd102humanUncertain significance GRCh37 chr8: 133,176,537-133,891,988 , GRCh38.p12 chr8: 132,164,290-132,879,743 LOC105375767, KCNQ3, 6 more genes
    nsv4675664copy number variation1nstd102humanPathogenic GRCh37 chr8: 128,877,995-146,295,771 , GRCh38.p12 chr8: 127,865,749-145,070,385 LOC105375789, LINC02990, 270 more genes
    nsv4675273copy number variation1nstd102humanPathogenic GRCh37 chr8: 121,042,467-146,295,771 , GRCh38.p12 chr8: 120,030,228-145,070,385 TOP1MT, SLA, 379 more genes
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