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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7075103inversion1nstd229human GRCh38 chr20: 48,844,229-55,780,453 , GRCh37.p13 chr20: 47,460,766-54,355,509 RPL12P4, LOC105372664, 113 more genes
    nsv7065344inversion1nstd229human GRCh38 chr20: 49,128,244-52,291,086 , GRCh37.p13 chr20: 47,744,781-50,907,625 PARD6B, LOC105372657, 77 more genes
    nsv7064075inversion1nstd229human GRCh38 chr20: 49,009,324-55,851,498 , GRCh37.p13 chr20: 47,625,861-54,426,554 DPM1, KCNG1, 115 more genes
    nsv7035670copy number variation1nstd229human GRCh38 chr20: 51,009,532-51,010,344 , GRCh37.p13 chr20: 49,626,069-49,626,881 KCNG1
    nsv7034810copy number variation1nstd229human GRCh38 chr20: 51,020,784-51,020,821 , GRCh37.p13 chr20: 49,637,321-49,637,358 KCNG1
    nsv7025728copy number variation1nstd229human GRCh38 chr20: 50,995,029-51,071,152 , GRCh37.p13 chr20: 49,611,566-49,687,689 KCNG1
    nsv7022559copy number variation1nstd229human GRCh38 chr20: 51,009,001-51,011,000 , GRCh37.p13 chr20: 49,625,538-49,627,537 KCNG1
    nsv7020409copy number variation1nstd229human GRCh38 chr20: 49,428,501-51,120,300 , GRCh37.p13 chr20: 48,045,038-49,736,837 LOC100421569, RNU6-147P, 54 more genes
    nsv6311050copy number variation1nstd102humanPathogenic GRCh37 chr20: 49,354,394-49,626,875 , GRCh38.p12 chr20: 50,737,857-51,010,338 KCNG1, TMSB4XP6, 7 more genes
    nsv6134305copy number variation1nstd213human GRCh37 chr20: 49,550,000-54,370,001 , GRCh38.p12 chr20: 50,933,463-55,794,945 KCNG1, NFATC2, 50 more genes
    nsv6134303copy number variation1nstd213human GRCh37 chr20: 48,330,000-49,920,001 , GRCh38.p12 chr20: 49,713,463-51,303,464 KCNG1, PTPN1, 51 more genes
    nsv5532759copy number variation1nstd206human GRCh38 chr20: 51,015,945-51,017,281 , GRCh37.p13 chr20: 49,632,482-49,633,818 KCNG1
    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
    nsv3918469copy number variation1nstd102humanLikely pathogenic NCBI36 chr20: 48,039,067-49,545,590 , GRCh37 chr20: 48,605,660-50,112,183 , GRCh38 chr20: 49,989,123-51,495,645 CEBPB, KCNG1, 40 more genes
    nsv3916972copy number variation1nstd102humanPathogenic GRCh38 chr20: 49,947,237-55,875,406 , NCBI36 chr20: 47,997,181-53,883,869 , GRCh37 chr20: 48,563,774-54,450,462 UBE2V1, KRT18P4, 87 more genes
    nsv3915867copy number variation1nstd102humanPathogenic GRCh37 chr20: 48,347,613-49,819,103 , GRCh38 chr20: 49,731,076-51,202,566 , NCBI36 chr20: 47,781,020-49,252,510 PEDS1-UBE2V1, SLC9A8, 48 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
    nsv3914824copy number variation1nstd102humanPathogenic NCBI36 chr20: 48,831,934-50,842,793 , GRCh38 chr20: 50,781,990-52,792,847 , GRCh37 chr20: 49,398,527-51,409,386 LINC01524, LOC105372667, 29 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
    nsv3908507copy number variation1nstd102humanPathogenic GRCh37 chr20: 47,627,844-52,045,480 , GRCh38.p12 chr20: 49,011,307-53,428,941 LOC100419570, KCNB1, 93 more genes
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