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Items: 1 to 20 of 652

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6129661insertion1nstd186human GRCh37 chr22: 20,109,567-20,109,608 , GRCh38.p12 chr22: 20,122,044-20,122,085 RANBP1
    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
    nsv5960553copy number variation1nstd209human GRCh38 chr22: 20,121,816-20,121,911 , GRCh37.p13 chr22: 20,109,339-20,109,434 RANBP1
    nsv5950892copy number variation1nstd209human GRCh38 chr22: 20,126,820-20,126,948 , GRCh37.p13 chr22: 20,114,343-20,114,471 RANBP1, SNORA77B
    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
    nsv5667594insertion1nstd207human GRCh38 chr22: 20,122,034-20,122,034 , GRCh37.p13 chr22: 20,109,557-20,109,557 RANBP1
    nsv5597633copy number variation1nstd207human GRCh38 chr22: 20,121,816-20,121,911 , GRCh37.p13 chr22: 20,109,339-20,109,434 RANBP1
    nsv5537866copy number variation1nstd206human GRCh38 chr22: 20,121,816-20,121,912 , GRCh37.p13 chr22: 20,109,339-20,109,435 RANBP1
    nsv5536174insertion1nstd206human GRCh38 chr22: 20,122,044-20,122,085 , GRCh37.p13 chr22: 20,109,567-20,109,608 RANBP1
    nsv5391404copy number variation2nstd186human GRCh37 chr22: 20,109,339-20,109,435 , GRCh38.p12 chr22: 20,121,816-20,121,912 RANBP1
    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
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