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Items: 1 to 20 of 117

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7075760inversion1nstd229human GRCh38 chr19: 54,368,885-57,042,988 , GRCh37.p13 chr19: 55,595,687-57,554,356 ZSCAN5C, TMEM190, 137 more genes
    nsv7067331inversion1nstd229human GRCh38 chr19: 54,730,353-56,291,074 , GRCh37.p13 chr19: 55,595,687-56,802,443 NLRP2, KIR2DP1, 85 more genes
    nsv7062087inversion1nstd229human GRCh38 chr19: 54,368,882-57,042,981 , GRCh37.p13 chr19: 55,595,687-57,554,349 BRSK1, ZIM2, 137 more genes
    nsv7060532inversion1nstd229human GRCh38 chr19: 54,888,784-55,573,986 , GRCh37.p13 chr19: 55,595,687-56,085,352 SSC5D, MIR6804, 41 more genes
    nsv7007138copy number variation1nstd229human GRCh38 chr19: 55,485,775-55,531,446 , GRCh37.p13 chr19: 55,997,142-56,042,813 SBK2, SSC5D, 1 more genes
    nsv6998458copy number variation1nstd229human GRCh38 chr19: 55,266,101-55,489,000 , GRCh37.p13 chr19: 55,777,469-56,000,367 TMEM150B, BRSK1, 17 more genes
    nsv6596657inversion1nstd223human GRCh38 chr19: 54,888,785-55,573,993 , GRCh37.p13 chr19: 55,595,687-56,085,359 SBK2, BRSK1, 41 more genes
    nsv6529975copy number variation1nstd223human GRCh38 chr19: 55,307,661-55,545,550 , GRCh37.p13 chr19: 55,819,029-56,056,916 BRSK1, SBK2, 18 more genes
    nsv6525135copy number variation1nstd223human GRCh38 chr19: 55,485,775-55,531,444 , GRCh37.p13 chr19: 55,997,142-56,042,811 SSC5D, NAT14, 1 more genes
    nsv6315178copy number variation1nstd102humanUncertain significance GRCh37 chr19: 55,434,660-56,463,734 , GRCh38.p12 chr19: 54,923,292-55,952,368 RDH13, SSC5D, 62 more genes
    nsv6291483copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 55,247,893-56,503,347 , GRCh38.p12 chr19: 54,911,986-55,991,981 IL11, PTPRH, 62 more genes
    nsv6283759copy number variation1nstd214human GRCh38 chr19: 55,483,674-55,483,739 , GRCh37.p13 chr19: 55,995,041-55,995,106 ZNF628, NAT14
    nsv6133475copy number variation1nstd213human GRCh37 chr19: 55,370,000-56,020,001 , GRCh38.p12 chr19: 54,911,986-55,508,634 IL11, PTPRH, 38 more genes
    nsv6045519copy number variation1nstd212human GRCh38 chr19: 55,487,293-55,487,375 , GRCh37.p13 chr19: 55,998,660-55,998,742 SSC5D, NAT14
    nsv4730034copy number variation1nstd102humanUncertain significance GRCh37 chr19: 54,334,195-56,434,037 , GRCh38.p12 chr19: 53,830,941-55,922,671 , GRCh38.p12 chr19|NT_187693.1: 1-1,066,800 , GRCh38.p12 chr19|NW_003571057.2: 1-1,091,841 , GRCh38.p12 chr19|NW_003571058.2: 1-1,066,390 , GRCh38.p12 chr19|NW_003571056.2: 1-1,064,304 KIR3DP1, NLRP9, 133 more genes
    nsv4729755copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,463,931-57,095,254 , GRCh38.p12 chr19: 47,960,674-56,583,886 SIGLEC5, MED25, 574 more genes
    nsv4267885copy number variation1nstd166human GRCh37.p13 chr19: 55,975,800-56,040,600 , GRCh38.p12 chr19: 55,464,433-55,529,233 SSC5D, SBK2, 2 more genes
    nsv3924732copy number variation1nstd102humanPathogenic GRCh38 chr19: 49,907,832-58,557,889 , GRCh37 chr19: 50,411,089-59,069,256 , NCBI36 chr19: 55,102,901-63,761,068 RPL39P37, CCDC106, 556 more genes
    nsv3923909copy number variation1nstd102humanPathogenic NCBI36 chr19: 55,347,589-63,784,382 , GRCh37 chr19: 50,655,777-59,092,570 , GRCh38 chr19: 50,152,520-58,581,203 OSCAR, FKBP1AP1, 535 more genes
    nsv3923613copy number variation1nstd102humanPathogenic GRCh38 chr19: 52,612,432-58,581,203 , GRCh37 chr19: 53,115,685-59,092,570 , NCBI36 chr19: 57,807,497-63,784,382 ZNF71-SMIM17, MIR518E, 393 more genes
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