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Items: 1 to 20 of 382

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098940copy number variation1nstd102humanUncertain significance GRCh38 chr22: 20,354,589-21,405,291 , GRCh37.p13 chr22: 20,708,879-21,759,580 FAM230B, POM121L7P, 52 more genes
    nsv6637971copy number variation1nstd102humanPathogenic GRCh37 chr22: 20,728,957-21,798,907 , GRCh38.p12 chr22: 20,374,667-21,444,618 THAP7-AS1, KLHL22, 53 more genes
    nsv6637943copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 21,188,487-21,804,597 , GRCh38.p12 chr22: 20,834,199-21,450,308 CRKL, PI4KA, 30 more genes
    nsv6637775copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,916,843-21,798,907 , GRCh38.p12 chr22: 18,339,130-21,444,618 CRKL, E2F6P3, 139 more genes
    nsv6637709copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,648,867-21,798,907 , GRCh38.p12 chr22: 18,166,100-21,444,618 FAM230A, GSC2, 144 more genes
    nsv6637680copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,916,828-21,800,797 , GRCh38.p12 chr22: 18,339,130-21,446,508 ABHD17AP4, E2F6P3, 139 more genes
    nsv6637518copy number variation1nstd102humanPathogenic GRCh37 chr22: 21,029,656-22,485,776 , GRCh38.p12 chr22: 20,675,368-22,131,383 ABHD17AP5, MIR301B, 70 more genes
    nsv6637461copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,916,843-21,800,471 , GRCh38.p12 chr22: 18,339,130-21,446,182 GGT2P, LOC105372861, 139 more genes
    nsv6637411copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 20,725,309-21,804,563 , GRCh38.p12 chr22: 20,371,019-21,450,274 CRKL, SERPIND1, 53 more genes
    nsv6637364copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,644,543-21,800,797 , GRCh38.p12 chr22: 18,161,776-21,446,508 LOC112268297, LOC112268300, 144 more genes
    nsv6637335copy number variation1nstd102humanPathogenic GRCh37 chr22: 21,465,662-22,962,962 , GRCh38.p12 chr22: 21,111,373-22,620,492 ABHD17AP5, UBE2L3, 97 more genes
    nsv6637324copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 20,725,318-21,800,797 , GRCh38.p12 chr22: 20,371,028-21,446,508 CRKL, SERPIND1, 53 more genes
    nsv6637204copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 20,728,957-21,800,797 , GRCh38.p12 chr22: 20,374,667-21,446,508 CRKL, SERPIND1, 53 more genes
    nsv6637170copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,916,843-21,804,563 , GRCh38.p12 chr22: 18,339,130-21,450,274 DGCR5, PPP1R26P3, 139 more genes
    nsv6637163copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,916,843-21,915,509 , GRCh38.p12 chr22: 18,339,130-21,561,220 THAP7, DVL1P1, 144 more genes
    nsv6634457copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 18,655,798-21,726,191 , GRCh38.p12 chr22: 18,173,031-21,371,902 ARVCF, COMT, 141 more genes
    nsv6634434copy number variation1nstd102humanPathogenic GRCh37 chr22: 20,732,808-21,800,471 , GRCh38.p12 chr22: 20,378,518-21,446,182 SLC7A4, SERPIND1, 53 more genes
    nsv6634411copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,639,780-21,910,280 , GRCh38.p12 chr22: 18,157,013-21,555,991 RIMBP3C, LOC107985588, 149 more genes
    nsv6627038copy number variation1nstd224human GRCh37 chr22: 18,877,787-21,726,191 , GRCh38.p12 chr22: 18,339,130-21,371,902 PI4KA, SEPTIN5, 136 more genes
    nsv6598009inversion1nstd223human GRCh38 chr22: 19,919,250-21,627,748 , GRCh37.p13 chr22: 19,906,773-21,982,037 CRKL, SNAP29, 83 more genes
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