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Items: 1 to 20 of 676

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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
    nsv5969314insertion1nstd209human GRCh38 chr22: 20,268,314-20,268,314 , GRCh37.p13 chr22: 20,255,837-20,255,837 RTN4R
    nsv5955600copy number variation1nstd209human GRCh38 chr22: 20,258,911-20,258,967 , GRCh37.p13 chr22: 20,246,434-20,246,490 RTN4R
    nsv5949726copy number variation1nstd209human GRCh38 chr22: 20,268,112-20,268,219 , GRCh37.p13 chr22: 20,255,635-20,255,742 RTN4R
    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
    nsv5671083insertion1nstd207human GRCh38 chr22: 20,251,935-20,251,935 , GRCh37.p13 chr22: 20,239,458-20,239,458 , RTN4R
    nsv5670785inversion1nstd207human GRCh38 chr22: 18,746,351-21,188,291 , GRCh37.p13 chr22: 18,733,864-21,542,580 , ARVCF, 114 more genes
    nsv5667967insertion1nstd207human GRCh38 chr22: 20,267,700-20,267,700 , GRCh37.p13 chr22: 20,255,223-20,255,223 RTN4R
    nsv5665457insertion1nstd207human GRCh38 chr22: 20,268,314-20,268,314 , GRCh37.p13 chr22: 20,255,837-20,255,837 RTN4R
    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
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