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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5948488copy number variation1nstd209human GRCh38 chr20: 35,615,008-35,615,317 , GRCh37.p13 chr20: 34,202,930-34,203,239 SPAG4
    nsv5671106insertion1nstd207human GRCh38 chr20: 35,615,416-35,615,416 , GRCh37.p13 chr20: 34,203,338-34,203,338 SPAG4
    nsv5025544copy number variation1nstd200human GRCh38 chr20: 35,579,437-35,641,133 , GRCh37.p13 chr20: 34,167,359-34,229,055 CPNE1, RPL37P1, 2 more genes
    nsv5022343copy number variation1nstd200human GRCh38 chr20: 32,602,560-45,347,064 , GRCh37.p13 chr20: 31,190,362-43,975,704 , SNHG11, 286 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
    nsv5022326copy number variation1nstd200human GRCh38 chr20: 32,216,214-44,981,731 , GRCh37.p13 chr20: 30,804,017-43,610,372 , HNF4A, 279 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
    nsv4868578copy number variation1nstd200human GRCh37 chr20: 30,804,017-43,610,372 , GRCh38.p12 chr20: 32,216,214-44,981,731 , SNORA71C, 279 more genes
    nsv4865542copy number variation1nstd200human GRCh37 chr20: 34,167,359-34,229,055 , GRCh38.p12 chr20: 35,579,437-35,641,133 SPAG4, RPL37P1, 2 more genes
    nsv4578159mobile element insertion1nstd166human GRCh37.p13 chr20: 34,209,143-34,209,143 , GRCh38.p12 chr20: 35,621,221-35,621,221 SPAG4
    nsv4457806copy number variation1nstd102humanPathogenic GRCh37 chr20: 29,833,608-35,087,952 , GRCh38.p12 chr20: 31,245,805-36,459,549 EFCAB8, C20orf203, 162 more genes
    nsv4385027copy number variation1nstd173human GRCh37 chr20: 34,171,259-34,209,351 , GRCh38.p12 chr20: 35,583,337-35,621,429 SPAG4, RPL37P1, 1 more genes
    nsv3920503copy number variation1nstd102humanPathogenic GRCh38 chr20: 32,062,768-35,906,606 , NCBI36 chr20: 30,114,232-33,957,942 , GRCh37 chr20: 30,650,571-34,494,528 UQCC1, MIR1289-1, 111 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
    nsv3918053copy number variation1nstd102humanPathogenic NCBI36 chr20: 25,703,100-38,491,480 , GRCh37.p13 chr20: 25,755,100-39,058,066 , GRCh38.p12 chr20: 25,774,464-40,429,426 MYH7B, PPP1R16B, 300 more genes
    nsv3913594copy number variation1nstd102humanPathogenic GRCh37 chr20: 32,020,169-35,450,284 , NCBI36 chr20: 31,483,830-34,883,698 , GRCh38 chr20: 33,432,363-36,821,881 AHCY, RALY, 93 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
    nsv3910160copy number variation1nstd102humanPathogenic NCBI36 chr20: 33,336,941-33,796,173 , GRCh38 chr20: 35,285,724-35,744,837 , GRCh37 chr20: 33,873,527-34,332,759 CPNE1, ROMO1, 19 more genes
    nsv3910142copy number variation1nstd102humanPathogenic GRCh37 chr20: 9,792,081-37,945,599 , GRCh38 chr20: 9,811,433-39,316,956 , NCBI36 chr20: 9,740,081-37,379,013 DYNLRB1, LOC107985402, 555 more genes
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