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Items: 16

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    Number of Variants: 16

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096812copy number variation1nstd102humanUncertain significance GRCh37 chr3: 52,018,081-52,023,091 , GRCh38.p12 chr3: 51,984,065-51,989,075 ACY1, ABHD14A-ACY1
    nsv7097205copy number variation1nstd102humanUncertain significance GRCh37 chr3: 52,010,900-52,019,232 , GRCh38.p12 chr3: 51,976,884-51,985,216 ABHD14A, ABHD14A-ACY1, 1 more genes
    nsv7096957copy number variation1nstd102humanPathogenic GRCh37 chr3: 52,018,081-52,188,388 , GRCh38.p12 chr3: 51,984,065-52,154,372 ACY1, DUSP7, 5 more genes
    nsv3912778copy number variation1nstd102humanPathogenic GRCh37 chr3: 49,498,433-55,348,528 , GRCh38 chr3: 49,461,000-55,314,500 , NCBI36 chr3: 49,473,437-55,323,568 ABHD14A, SEMA3G, 160 more genes
    nsv3885606copy number variation1nstd102humanPathogenic GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156 ABHD14A, RNU4-62P, 2880 more genes
    nsv3889228copy number variation2nstd102humanPathogenic GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115 ABHD14A, NDUFB4, 2876 more genes
    nsv3880617copy number variation1nstd102humanPathogenic GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391 ABHD14A, RPL23AP49, 2875 more genes
    nsv4347762copy number variation1nstd102humanPathogenic GRCh37 chr3: 45,153,770-53,878,616 , GRCh38.p12 chr3: 45,112,278-53,844,589 ABHD14A, UQCRC1, 291 more genes
    nsv3917135copy number variation1nstd102humanLikely pathogenic NCBI36 chr3: 51,406,905-55,073,516 , GRCh37 chr3: 51,431,865-55,098,476 , GRCh38 chr3: 51,394,434-55,064,449 ABHD14A, ACY1, 96 more genes
    nsv3889305copy number variation1nstd102humanBenign GRCh37 chr3: 51,982,251-52,064,510 , GRCh38.p12 chr3: 51,948,235-52,030,494 ABHD14A, ACY1, 7 more genes
    nsv3889601copy number variation1nstd102humanBenign GRCh37 chr3: 51,985,664-52,021,422 , GRCh38.p12 chr3: 51,951,648-51,987,406 ABHD14A, ACY1, 4 more genes
    nsv3874453copy number variation1nstd102humanBenign GRCh37 chr3: 51,985,664-52,020,019 , GRCh38.p12 chr3: 51,951,648-51,986,003 ABHD14A, ABHD14B, 4 more genes
    nsv3872850copy number variation1nstd102humanBenign GRCh37 chr3: 51,985,664-52,018,232 , GRCh38.p12 chr3: 51,951,648-51,984,216 ABHD14A, PCBP4, 4 more genes
    nsv7096813copy number variation1nstd102humanUncertain significance GRCh37 chr3: 52,018,081-53,845,433 , GRCh38.p12 chr3: 51,984,065-53,811,406 DNAH1, BAP1, 62 more genes
    nsv4673975copy number variation1nstd102humanUncertain significance GRCh37 chr3: 51,247,306-53,069,942 , GRCh38.p12 chr3: 51,209,875-53,035,926 ABHD14A, RRP9, 76 more genes
    nsv4728314copy number variation1nstd102humanUncertain significance GRCh37 chr3: 51,975,459-52,561,678 , GRCh38.p12 chr3: 51,941,443-52,527,662 ABHD14A, ABHD14A-ACY1, 32 more genes
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