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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5976704inversion1nstd209human GRCh38 chr20: 36,955,252-45,585,469 , GRCh37.p13 chr20: 35,583,655-44,214,108 , ADA, 180 more genes
    nsv5324090inversion1nstd204human GRCh37.p13 chr20: 35,583,652-44,214,109 , GRCh38.p13 chr20: 36,955,249-45,585,470 , BPI, 180 more genes
    nsv5033948inversion1nstd200human GRCh38 chr20: 36,955,253-45,585,464 , GRCh37.p13 chr20: 35,583,656-44,214,103 , EMILIN3, 180 more genes
    nsv5022342copy number variation1nstd200human GRCh38 chr20: 32,576,247-46,538,786 , GRCh37.p13 chr20: 31,164,049-45,167,425 , NECAB3, 350 more genes
    nsv4884257inversion1nstd200human GRCh37 chr20: 35,583,656-44,214,103 , GRCh38.p12 chr20: 36,955,253-45,585,464 , TGM2, 180 more genes
    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
    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
    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
    nsv3892750copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,961,294 , GRCh38.p12 chr20: 82,603-64,329,941 TGIF2-RAB5IF, LOC105372609, 1314 more genes
    nsv3167979copy number variation1nstd158human GRCh37 chr20: 10,950,814-51,076,738 , GRCh38.p12 chr20: 10,970,166-52,460,199 , ADA, 850 more genes
    nsv3167475copy number variation1nstd151human GRCh37 chr20: 43,942,672-44,037,645 , GRCh38.p12 chr20: 45,314,032-45,409,005 SDC4, RBPJL, 7 more genes
    nsv3167386copy number variation1nstd151human GRCh37 chr20: 43,743,637-44,108,738 , GRCh38.p12 chr20: 45,114,996-45,480,098 PI3, SEMG1, 22 more genes
    nsv3164275copy number variation1nstd151human GRCh37 chr20: 42,144,730-46,319,044 , GRCh38.p12 chr20: 43,516,090-47,690,300 , MMP9, 138 more genes
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