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Items: 1 to 20 of 618

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv5721772mobile element insertion2nstd211human GRCh38 chr22: 19,460,772-19,460,772 , GRCh37.p13 chr22: 19,448,295-19,448,295 UFD1
    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
    nsv5670785inversion1nstd207human GRCh38 chr22: 18,746,351-21,188,291 , GRCh37.p13 chr22: 18,733,864-21,542,580 , ARVCF, 114 more genes
    nsv5664619insertion1nstd207human GRCh38 chr22: 19,448,418-19,448,418 , GRCh37.p13 chr22: 19,435,941-19,435,941 UFD1, C22orf39, 1 more genes
    nsv5381807copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,886,915-21,461,017 , GRCh38.p12 chr22: 18,339,130-21,106,728 BCRP5, TSSK2, 124 more genes
    nsv5381313copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,889,490-21,463,730 , GRCh38.p12 chr22: 18,339,130-21,109,441 SERPIND1, CA15P1, 124 more genes
    nsv5381148copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,886,915-21,463,730 , GRCh38.p12 chr22: 18,339,130-21,109,441 MIR3618, SMPD4P1, 124 more genes
    nsv5380708copy number variation1nstd208human GRCh37 chr22: 18,910,000-21,459,999 , GRCh38.p12 chr22: 18,339,130-21,105,710 , ARVCF, 126 more genes
    nsv5380707copy number variation1nstd208human GRCh37 chr22: 18,912,300-21,465,400 , GRCh38.p12 chr22: 18,339,130-21,111,111 , ARVCF, 127 more genes
    nsv5299251copy number variation1nstd204human GRCh37.p13 chr22: 19,346,605-19,571,623 , GRCh38.p13 chr22: 19,358,601-19,584,100 CLDN5, HIRA, 7 more genes
    nsv5296575copy number variation1nstd204human GRCh38.p13 chr22: 19,409,134-19,454,271 , GRCh37.p13 chr22: 19,396,657-19,441,794 UFD1, HIRA, 3 more genes
    nsv5290608copy number variation1nstd204human GRCh38.p13 chr22: 18,943,401-19,929,500 , GRCh37.p13 chr22: 18,930,914-19,917,023 MRPL40, GP1BB, 37 more genes
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