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Items: 1 to 20 of 918

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130236insertion1nstd186human GRCh37 chr22: 19,062,644-19,062,646 , GRCh38.p12 chr22: 19,075,131-19,075,133 DGCR2
    nsv6112800copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,889,977-21,463,189 , GRCh38.p12 chr22: 18,339,130-21,108,900 MIR4761, TUBA3FP, 124 more genes
    nsv6112793copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,889,693-21,465,485 , GRCh38.p12 chr22: 18,339,130-21,111,196 THAP7, LOC100129262, 125 more genes
    nsv6112781copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,841,374-21,465,101 , GRCh38.p12 chr22: 18,339,130-21,110,812 SEPTIN5, RNU6-225P, 125 more genes
    nsv6112779copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,889,571-21,464,697 , GRCh38.p12 chr22: 18,339,130-21,110,408 PRODH, MIR3618, 124 more genes
    nsv5980452copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,889,969-21,462,658 , GRCh38.p12 chr22: 18,339,130-21,108,369 LINC01637, BCRP7, 124 more genes
    nsv5976399inversion1nstd209human GRCh38 chr22: 17,577,704-20,098,016 , GRCh37.p13 chr22: 18,057,770-20,703,815 , ARVCF, 90 more genes
    nsv5975167inversion1nstd209human GRCh38 chr22: 19,062,775-19,064,681 , GRCh37.p13 chr22: 19,050,288-19,052,194 DGCR2
    nsv5973392insertion1nstd209human GRCh38 chr22: 19,062,779-19,062,779 , GRCh37.p13 chr22: 19,050,292-19,050,292 DGCR2
    nsv5971514insertion1nstd209human GRCh38 chr22: 19,075,132-19,075,132 , GRCh37.p13 chr22: 19,062,645-19,062,645 DGCR2
    nsv5965261copy number variation1nstd209human GRCh38 chr22: 19,062,807-19,062,864 , GRCh37.p13 chr22: 19,050,320-19,050,377 DGCR2
    nsv5961431copy number variation1nstd209human GRCh38 chr22: 19,075,969-19,076,099 , GRCh37.p13 chr22: 19,063,482-19,063,612 DGCR2
    nsv5959963copy number variation1nstd209human GRCh38 chr22: 19,076,248-19,076,386 , GRCh37.p13 chr22: 19,063,761-19,063,899 DGCR2
    nsv5959882copy number variation1nstd209human GRCh38 chr22: 19,113,203-19,113,891 , GRCh37.p13 chr22: 19,100,716-19,101,404 DGCR2
    nsv5952976copy number variation1nstd209human GRCh38 chr22: 19,062,668-19,062,869 , GRCh37.p13 chr22: 19,050,181-19,050,382 DGCR2
    nsv5952137copy number variation1nstd209human GRCh38 chr22: 19,112,417-19,113,111 , GRCh37.p13 chr22: 19,099,930-19,100,624 DGCR2
    nsv5949995copy number variation1nstd209human GRCh38 chr22: 19,099,713-19,100,015 , GRCh37.p13 chr22: 19,087,226-19,087,528 DGCR2
    nsv5673274copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,882-21,563,420 , GRCh38.p12 chr22: 18,339,130-21,209,131 UFD1-AS1, LOC100129254, 129 more genes
    nsv5673187copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr22: 18,900,688-21,351,637 , GRCh38.p12 chr22: 18,339,130-20,997,348 RN7SKP131, DGCR6, 114 more genes
    nsv5673185copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,882-21,571,027 , GRCh38.p12 chr22: 18,339,130-21,216,738 CCDC188, LOC107987325, 129 more genes
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