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Items: 12

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    Number of Variants: 12

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3899635copy number variation1nstd102humanBenign GRCh37 chr12: 56,211,455-56,211,834 , GRCh38.p12 chr12: 55,817,671-55,818,050 SARNP, ORMDL2
    nsv3898514copy number variation1nstd102humanBenign GRCh37 chr12: 56,211,506-56,211,847 , GRCh38.p12 chr12: 55,817,722-55,818,063 SARNP, ORMDL2
    nsv3903039copy number variation1nstd102humanBenign GRCh37 chr12: 56,211,506-56,211,834 , GRCh38.p12 chr12: 55,817,722-55,818,050 SARNP, ORMDL2
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 SARNP, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 SARNP, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 SARNP, RNU4ATAC16P, 2452 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 SARNP, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 SARNP, OR5BT1P, 2441 more genes
    nsv4675143copy number variation1nstd102humanPathogenic GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523 SARNP, OR6C71P, 183 more genes
    nsv3910529copy number variation1nstd102humanPathogenic NCBI36 chr12: 52,100,657-54,882,993 , GRCh38 chr12: 53,420,606-56,202,942 , GRCh37 chr12: 53,814,390-56,596,726 SARNP, OR6C72P, 140 more genes
    nsv3893686copy number variation1nstd102humanUncertain significance GRCh37 chr12: 55,975,308-56,593,032 , GRCh38.p12 chr12: 55,581,524-56,199,248 SARNP, GDF11, 40 more genes
    nsv6637639copy number variation1nstd102humanUncertain significance GRCh37 chr12: 56,056,806-56,438,901 , GRCh38.p12 chr12: 55,663,022-56,045,117 SARNP, DGKA, 24 more genes
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