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Items: 1 to 20 of 683

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7140396copy number variation1nstd232human GRCh37.p13 chr21: 47,554,483-47,554,590 , GRCh38.p12 chr21: 46,134,569-46,134,676 FTCD
    nsv7138080insertion1nstd232human GRCh37.p13 chr21: 47,560,274-47,560,274 , GRCh38.p12 chr21: 46,140,360-46,140,360 FTCD
    nsv7096096copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 43,160,998-47,754,702 , GRCh38.p12 chr21: 41,740,838-46,334,788 TSPEAR, LINC01424, 158 more genes
    nsv7076050inversion1nstd229human GRCh38 chr21: 45,605,764-46,186,956 , GRCh37.p13 chr21: 47,025,678-47,606,870 SPATC1L, PCBP3, 11 more genes
    nsv7072626inversion1nstd229human GRCh38 chr21: 46,110,934-46,158,120 , GRCh37.p13 chr21: 47,530,848-47,578,034 FTCD, COL6A2, 1 more genes
    nsv7065977inversion1nstd229human GRCh38 chr21: 46,100,911-46,189,866 , GRCh37.p13 chr21: 47,520,825-47,609,780 LSS, COL6A2, 3 more genes
    nsv7037973copy number variation1nstd229human GRCh38 chr21: 46,121,114-46,351,190 , GRCh37.p13 chr21: 47,541,028-47,771,104 C21orf58, PCNT, 9 more genes
    nsv7037428copy number variation1nstd229human GRCh38 chr21: 46,134,951-46,145,480 , GRCh37.p13 chr21: 47,554,865-47,565,394 FTCD
    nsv7036785copy number variation1nstd229human GRCh38 chr21: 46,056,327-46,224,819 , GRCh37.p13 chr21: 47,476,241-47,644,733 FTCD, PSMA6P3, 5 more genes
    nsv7034249copy number variation1nstd229human GRCh38 chr21: 46,125,401-46,161,300 , GRCh37.p13 chr21: 47,545,315-47,581,214 SPATC1L, COL6A2, 2 more genes
    nsv7031966copy number variation1nstd229human GRCh38 chr21: 46,138,631-46,138,713 , GRCh37.p13 chr21: 47,558,545-47,558,627 FTCD
    nsv7030201copy number variation1nstd229human GRCh38 chr21: 45,946,800-46,158,228 , GRCh37.p13 chr21: 47,366,714-47,578,142 LOC101928796, COL6A1, 6 more genes
    nsv7029910copy number variation1nstd229human GRCh38 chr21: 46,015,310-46,317,714 , GRCh37.p13 chr21: 47,435,224-47,737,628 MCM3AP, C21orf58, 10 more genes
    nsv7027855copy number variation1nstd229human GRCh38 chr21: 46,089,429-46,141,194 , GRCh37.p13 chr21: 47,509,343-47,561,108 COL6A2, FTCD
    nsv7023477copy number variation1nstd229human GRCh38 chr21: 46,132,401-46,137,300 , GRCh37.p13 chr21: 47,552,315-47,557,214 FTCD, COL6A2
    nsv7022787copy number variation1nstd229human GRCh38 chr21: 46,033,085-46,157,493 , GRCh37.p13 chr21: 47,452,999-47,577,407 FTCD, COL6A2, 3 more genes
    nsv7021844copy number variation1nstd229human GRCh38 chr21: 46,017,706-46,135,739 , GRCh37.p13 chr21: 47,437,620-47,555,653 COL6A2, FTCD, 2 more genes
    nsv7021733copy number variation1nstd229human GRCh38 chr21: 46,008,378-46,181,422 , GRCh37.p13 chr21: 47,428,292-47,601,336 FTCD-AS1, FTCD, 4 more genes
    nsv7020959copy number variation1nstd229human GRCh38 chr21: 46,141,529-46,145,202 , GRCh37.p13 chr21: 47,561,443-47,565,116 FTCD
    nsv7020683copy number variation1nstd229human GRCh38 chr21: 46,090,901-46,241,100 , GRCh37.p13 chr21: 47,510,815-47,661,014 FTCD-AS1, MCM3AP-AS1, 6 more genes
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