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Items: 1 to 20 of 828

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6127101copy number variation1nstd186human GRCh37 chr22: 19,907,252-19,907,315 , GRCh38.p12 chr22: 19,919,729-19,919,792 TXNRD2
    nsv6125516copy number variation1nstd186human GRCh37 chr22: 19,912,390-19,913,406 , GRCh38.p12 chr22: 19,924,867-19,925,883 TXNRD2
    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
    nsv5973680insertion1nstd209human GRCh38 chr22: 19,919,235-19,919,235 , GRCh37.p13 chr22: 19,906,758-19,906,758 TXNRD2
    nsv5965101copy number variation1nstd209human GRCh38 chr22: 19,924,994-19,925,877 , GRCh37.p13 chr22: 19,912,517-19,913,400 TXNRD2
    nsv5964110copy number variation1nstd209human GRCh38 chr22: 19,886,537-19,886,587 , GRCh37.p13 chr22: 19,874,060-19,874,110 RPL8P5, TXNRD2
    nsv5956954copy number variation1nstd209human GRCh38 chr22: 19,919,729-19,919,779 , GRCh37.p13 chr22: 19,907,252-19,907,302 TXNRD2
    nsv5953301copy number variation1nstd209human GRCh38 chr22: 19,920,316-19,920,840 , GRCh37.p13 chr22: 19,907,839-19,908,363 TXNRD2
    nsv5714069mobile element insertion2nstd211human GRCh38 chr22: 19,919,251-19,919,251 , GRCh37.p13 chr22: 19,906,774-19,906,774 TXNRD2
    nsv5701667mobile element insertion1nstd211human GRCh38 chr22: 19,914,827-19,914,827 , GRCh37.p13 chr22: 19,902,350-19,902,350 TXNRD2
    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
    nsv5672121insertion2nstd207human GRCh38 chr22: 19,907,459-19,907,459 , GRCh37.p13 chr22: 19,894,982-19,894,982 TXNRD2
    nsv5670785inversion1nstd207human GRCh38 chr22: 18,746,351-21,188,291 , GRCh37.p13 chr22: 18,733,864-21,542,580 , ARVCF, 114 more genes
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