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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7057525inversion1nstd229human GRCh38 chr1: 7,829,944-15,116,659 , GRCh37.p13 chr1: 7,890,004-15,443,155 PEX14, RNU6-304P, 187 more genes
    nsv7052549inversion1nstd229human GRCh38 chr1: 8,322,830-13,737,741 , GRCh37.p13 chr1: 8,382,890-14,064,236 MIR4632, PLOD1, 166 more genes
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv7048193inversion1nstd229human GRCh38 chr1: 9,469,567-16,279,388 , GRCh37.p13 chr1: 9,529,626-16,605,883 PRAMEF36P, HNRNPCL3, 193 more genes
    nsv6657761copy number variation1nstd229human GRCh38 chr1: 9,535,063-15,753,073 , GRCh37.p13 chr1: 9,595,122-16,079,568 SLC25A34-AS1, TMEM274P, 173 more genes
    nsv6641311copy number variation1nstd229human GRCh38 chr1: 13,415,741-13,446,863 , GRCh37.p13 chr1: 13,742,198-13,773,330 PRAMEF20
    nsv6641310copy number variation1nstd229human GRCh38 chr1: 13,412,313-13,420,504 , GRCh37.p13 chr1: 13,738,770-13,746,979 PRAMEF20
    nsv6641309copy number variation1nstd229human GRCh38 chr1: 13,411,001-13,420,300 , GRCh37.p13 chr1: 13,737,458-13,746,775 PRAMEF20
    nsv6641308copy number variation1nstd229human GRCh38 chr1: 13,408,432-13,449,256 , GRCh37.p13 chr1: 13,734,889-13,775,723 PRAMEF20
    nsv6641167copy number variation1nstd229human GRCh38 chr1: 13,410,878-13,420,188 , GRCh37.p13 chr1: 13,737,335-13,746,663 PRAMEF20
    nsv6641165copy number variation1nstd229human GRCh38 chr1: 13,408,487-13,415,262 , GRCh37.p13 chr1: 13,734,944-13,741,719 PRAMEF20
    nsv6641077copy number variation1nstd229human GRCh38 chr1: 13,409,832-13,417,845 , GRCh37.p13 chr1: 13,736,289-13,744,302 PRAMEF20
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6538461inversion1nstd223human GRCh38 chr1: 13,415,120-13,415,788 , GRCh37.p13 chr1: 13,741,577-13,742,245 PRAMEF20
    nsv6333223copy number variation1nstd223human GRCh38 chr1: 13,409,858-13,417,851 , GRCh37.p13 chr1: 13,736,315-13,744,308 PRAMEF20
    nsv6332223copy number variation1nstd223human GRCh38 chr1: 13,415,253-13,419,383 , GRCh37.p13 chr1: 13,741,710-13,745,858 PRAMEF20
    nsv6317139copy number variation1nstd223human GRCh38 chr1: 13,310,832-13,555,121 , GRCh37.p13 chr1: 13,418,399-13,881,616 PRAMEF20, PRAMEF14, 7 more genes
    nsv6315241copy number variation1nstd102humanLikely pathogenic GRCh38 chr1: 10,115,497-16,283,149 , GRCh37.p13 chr1: 10,175,555-16,609,644 CASP9, CD24P1, 173 more genes
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
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