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Items: 1 to 20 of 221

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 LINC01742, MTCO2P1, 253 more genes
    nsv5562052sequence alteration1nstd206human GRCh38 chr20: 62,354,450-62,364,011 , GRCh37.p13 chr20: 60,929,506-60,939,067 LAMA5, LAMA5-AS1
    nsv5381223copy number variation2nstd102humanUncertain significance GRCh37 chr20: 60,831,241-62,664,346 , GRCh38.p12 chr20: 62,256,185-64,032,993 KCNQ2-AS1, HAR1B, 100 more genes
    nsv5327605copy number variation1nstd204human GRCh37.p13 chr20: 60,927,179-60,927,654 , GRCh38.p13 chr20: 62,352,123-62,352,598 LAMA5-AS1, LAMA5
    nsv5289201copy number variation1nstd204human GRCh38.p13 chr20: 62,058,601-62,909,300 , GRCh37.p13 chr20: 60,633,657-61,540,652 , LOC105372716, 47 more genes
    nsv5284819copy number variation1nstd204human GRCh38.p13 chr20: 62,134,401-62,423,600 , GRCh37.p13 chr20: 60,709,457-60,998,656 , RPS21, 15 more genes
    nsv5025798copy number variation1nstd200human GRCh38 chr20: 62,254,262-62,407,169 , GRCh37.p13 chr20: 60,829,318-60,982,225 , MIR4758, 8 more genes
    nsv4854153copy number variation1nstd200human GRCh37 chr20: 60,927,182-60,927,645 , GRCh38.p12 chr20: 62,352,126-62,352,589 LAMA5, LAMA5-AS1
    nsv4676332copy number variation1nstd102humanPathogenic GRCh37 chr20: 55,743,522-62,032,989 , GRCh38.p12 chr20: 57,168,466-63,401,636 BMP7, MIR298, 153 more genes
    nsv4676181copy number variation1nstd102humanPathogenic GRCh37 chr20: 56,788,101-62,762,405 , GRCh38.p12 chr20: 58,213,045-64,131,052 LOC105372697, MIR647, 174 more genes
    nsv4634013copy number variation1nstd183human GRCh37 chr20: 60,925,859-60,969,785 , GRCh38.p12 chr20: 62,350,803-62,394,729 LAMA5, LOC105372708, 3 more genes
    nsv4436326complex substitution1nstd102humanUncertain significance GRCh37 chr20: 60,885,242-61,929,348 , GRCh38.p12 chr20: 62,310,186-63,297,996 COL9A3, LAMA5, 52 more genes
    nsv4357849copy number variation1nstd102humanPathogenic GRCh37 chr20: 54,143,747-62,194,881 , GRCh38.p12 chr20: 55,568,689-63,563,528 RBM38, LAMA5, 192 more genes
    nsv4276615copy number variation1nstd166human GRCh37.p13 chr20: 60,930,661-60,930,911 , GRCh38.p12 chr20: 62,355,605-62,355,855 LAMA5, LAMA5-AS1
    nsv3966980copy number variation1nstd168human GRCh38 chr20: 62,313,103-62,356,771 , GRCh37.p13 chr20: 60,888,159-60,931,827 LAMA5, MIR4758, 1 more genes
    nsv3955317insertion1nstd168human GRCh38 chr20: 62,281,409-62,413,244 , GRCh37.p13 chr20: 60,856,465-60,988,300 , LAMA5, 9 more genes
    nsv3924353copy number variation1nstd102humanPathogenic NCBI36 chr20: 59,335,000-62,379,123 , GRCh38 chr20: 61,326,549-64,277,326 , GRCh37 chr20: 59,901,605-62,908,679 PPDPF, CRMA, 126 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
    nsv3916789copy number variation1nstd102humanPathogenic GRCh37 chr20: 57,617,021-62,908,674 , GRCh38 chr20: 59,041,966-64,277,321 , NCBI36 chr20: 57,050,416-62,379,118 RNU7-141P, UCKL1, 153 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
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