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Items: 1 to 20 of 148

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5214265mobile element deletion1nstd204human GRCh38.p13 chr20: 46,117,289-46,117,642 , GRCh37.p13 chr20: 44,745,928-44,746,281 CD40
    nsv5022342copy number variation1nstd200human GRCh38 chr20: 32,576,247-46,538,786 , GRCh37.p13 chr20: 31,164,049-45,167,425 , NECAB3, 350 more genes
    nsv5012858copy number variation1nstd200human GRCh38 chr20: 46,116,169-46,121,877 , GRCh37.p13 chr20: 44,744,808-44,750,516 CD40
    nsv4868593copy number variation1nstd200human GRCh37 chr20: 31,164,049-45,167,425 , GRCh38.p12 chr20: 32,576,247-46,538,786 , MMP24-AS1-EDEM2, 350 more genes
    nsv4853684copy number variation1nstd200human GRCh37 chr20: 44,744,808-44,750,516 , GRCh38.p12 chr20: 46,116,169-46,121,877 CD40
    nsv4777588mobile element deletion1nstd200human GRCh37 chr20: 44,745,957-44,746,253 , GRCh38.p12 chr20: 46,117,318-46,117,614 CD40
    nsv4674805copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 34,980,430-46,806,549 , GRCh38.p12 chr20: 36,352,027-48,177,806 ADA, BPI, 266 more genes
    nsv4570239sequence alteration1nstd166human GRCh37.p13 chr20: 44,752,740-44,753,619 , GRCh38.p12 chr20: 46,124,101-46,124,980 CD40
    nsv4536067copy number variation1nstd166human GRCh37.p13 chr20: 44,746,952-44,747,716 , GRCh38.p12 chr20: 46,118,313-46,119,077 CD40
    nsv4514547mobile element insertion1nstd166human GRCh37.p13 chr20: 44,757,916-44,757,916 , GRCh38.p12 chr20: 46,129,277-46,129,277 CD40
    nsv4505219mobile element insertion1nstd166human GRCh37.p13 chr20: 44,755,642-44,755,642 , GRCh38.p12 chr20: 46,127,003-46,127,003 CD40
    nsv4279578copy number variation1nstd166human GRCh37.p13 chr20: 44,736,404-44,753,694 , GRCh38.p12 chr20: 46,107,765-46,125,055 CD40
    nsv3920218copy number variation1nstd102humanPathogenic GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118 MIR3646, NPEPL1, 1310 more genes
    nsv3915005copy number variation1nstd102humanPathogenic NCBI36 chr20: 42,849,759-62,379,118 , GRCh37 chr20: 43,416,345-62,908,674 , GRCh38 chr20: 44,787,704-64,277,321 FTLP1, RNA5SP487, 472 more genes
    nsv3912723copy number variation1nstd102humanPathogenic NCBI36 chr20: 30,288,202-45,731,170 , GRCh37.p13 chr20: 30,824,541-46,297,763 , GRCh38.p12 chr20: 32,236,738-47,669,019 LOC107985448, LOC105372613, 370 more genes
    nsv3910818copy number variation1nstd102humanUncertain significance NCBI36 chr20: 25,616,026-62,435,964 , GRCh37.p13 chr20: 25,668,026-62,965,520 , GRCh38.p12 chr20: 25,687,390-64,334,167 RNA5SP481, LOC105372625, 855 more genes
    nsv3910049copy number variation1nstd102humanPathogenic NCBI36 chr20: 33,289,165-45,693,969 , GRCh37 chr20: 33,825,749-46,260,562 , GRCh38 chr20: 35,237,946-47,631,818 NDUFB4P10, EIF4EBP2P1, 291 more genes
    nsv3905072copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435 LRRN4, SNRPB, 1313 more genes
    nsv3896520copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,912,463 , GRCh38.p12 chr20: 82,603-64,281,110 COMMD7, RNU7-6P, 1311 more genes
    nsv3895314copy number variation2nstd102humanPathogenic GRCh37 chr20: 61,569-62,915,555 , GRCh38.p12 chr20: 80,928-64,284,202 PKIG, LINC01523, 1311 more genes
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