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Items: 1 to 20 of 294

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5973452inversion1nstd209human GRCh38 chr21: 43,812,978-43,835,115 , GRCh37.p13 chr21: 45,232,859-45,254,996 AATBC
    nsv5876994copy number variation1nstd209human GRCh38 chr21: 43,812,813-43,821,173 , GRCh37.p13 chr21: 45,232,694-45,241,054 AATBC
    nsv5868187copy number variation1nstd209human GRCh38 chr21: 43,812,812-43,843,924 , GRCh37.p13 chr21: 45,232,693-45,263,805 AATBC
    nsv5598607copy number variation1nstd207human GRCh38 chr21: 43,810,421-43,810,500 , GRCh37.p13 chr21: 45,230,302-45,230,381 AATBC
    nsv5557628sequence alteration1nstd206human GRCh38 chr21: 43,812,978-43,844,629 , GRCh37.p13 chr21: 45,232,859-45,264,510 AATBC
    nsv5551002copy number variation1nstd206human GRCh38 chr21: 43,812,925-43,822,031 , GRCh37.p13 chr21: 45,232,806-45,241,912 AATBC
    nsv5375566translocation1nstd200human GRCh38 chr21: 43,835,116-43,835,116 , GRCh38 chr21: 43,812,978-43,812,978 , GRCh37.p13 chr21: 45,232,859-45,232,859 , GRCh37.p13 chr21: 45,254,997-45,254,997 AATBC
    nsv5337252translocation1nstd200human GRCh37 chr21: 45,232,859-45,232,859 , GRCh37 chr21: 45,254,997-45,254,997 , GRCh38.p12 chr21: 43,812,978-43,812,978 , GRCh38.p12 chr21: 43,835,116-43,835,116 AATBC
    nsv5321245translocation1nstd204human GRCh38.p13 chr21: 43,812,978-43,812,978 , GRCh38.p13 chr21: 43,835,116-43,835,116 , GRCh37.p13 chr21: 45,254,997-45,254,997 , GRCh37.p13 chr21: 45,232,859-45,232,859 AATBC
    nsv5295789copy number variation1nstd204human GRCh38.p13 chr21: 43,812,962-43,821,323 , GRCh37.p13 chr21: 45,232,843-45,241,204 AATBC
    nsv5294561copy number variation1nstd204human GRCh38.p13 chr21: 43,813,001-43,821,800 , GRCh37.p13 chr21: 45,232,882-45,241,681 AATBC
    nsv4863419copy number variation1nstd200human GRCh37 chr21: 45,230,246-45,230,559 , GRCh38.p12 chr21: 43,810,365-43,810,678 AATBC
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4682475copy number variation1nstd102humanPathogenic GRCh37 chr21: 44,836,602-45,629,566 , GRCh38.p12 chr21: 43,416,722-44,209,683 LINC00313, LOC105372826, 27 more genes
    nsv4682183copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 44,838,120-45,629,566 , GRCh38.p12 chr21: 43,418,240-44,209,683 RRP1, LINC00313, 27 more genes
    nsv4681891copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,792,871-46,330,697 , GRCh38.p12 chr21: 42,372,762-44,910,782 DNMT3L-AS1, WDR4, 100 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676376copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,472,147-48,097,372 , GRCh38.p12 chr21: 42,052,038-46,677,460 LOC101928369, MTND6P21, 157 more genes
    nsv4676321copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,044,877-48,100,155 , GRCh38.p12 chr21: 40,672,951-46,680,243 SLC19A1, LINC03039, 183 more genes
    nsv4676282copy number variation1nstd102humanLikely benign GRCh37 chr21: 44,847,202-45,265,689 , GRCh38.p12 chr21: 43,427,322-43,845,808 MIR6070, TMEM97P1, 14 more genes
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