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Items: 1 to 20 of 335

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099215copy number variation1nstd231human GRCh38.p12 chr1: 84,991,383-97,594,649 , GRCh37 chr1: 85,457,066-98,060,205 ABCA4, BRDT, 220 more genes
    nsv7056163inversion1nstd229human GRCh38 chr1: 96,700,223-96,720,416 , GRCh37.p13 chr1: 97,165,779-97,185,972 PTBP2
    nsv7054815inversion1nstd229human GRCh38 chr1: 96,719,908-96,720,378 , GRCh37.p13 chr1: 97,185,464-97,185,934 PTBP2
    nsv7045742inversion1nstd229human GRCh38 chr1: 96,725,685-96,731,995 , GRCh37.p13 chr1: 97,191,241-97,197,551 PTBP2
    nsv6657810copy number variation1nstd229human GRCh38 chr1: 96,809,280-96,812,325 , GRCh37.p13 chr1: 97,274,836-97,277,881 PTBP2
    nsv6657808copy number variation1nstd229human GRCh38 chr1: 96,737,194-96,739,853 , GRCh37.p13 chr1: 97,202,750-97,205,409 PTBP2
    nsv6657729copy number variation1nstd229human GRCh38 chr1: 96,802,186-96,844,837 , GRCh37.p13 chr1: 97,267,742-97,310,393 PTBP2
    nsv6657728copy number variation1nstd229human GRCh38 chr1: 96,795,551-96,797,982 , GRCh37.p13 chr1: 97,261,107-97,263,538 PTBP2
    nsv6657726copy number variation1nstd229human GRCh38 chr1: 96,731,952-96,735,799 , GRCh37.p13 chr1: 97,197,508-97,201,355 PTBP2
    nsv6657725copy number variation1nstd229human GRCh38 chr1: 96,728,395-96,732,237 , GRCh37.p13 chr1: 97,193,951-97,197,793 PTBP2
    nsv6657653copy number variation1nstd229human GRCh38 chr1: 96,807,602-96,810,593 , GRCh37.p13 chr1: 97,273,158-97,276,149 PTBP2
    nsv6657651copy number variation1nstd229human GRCh38 chr1: 96,754,597-96,757,713 , GRCh37.p13 chr1: 97,220,153-97,223,269 PTBP2
    nsv6657649copy number variation1nstd229human GRCh38 chr1: 96,733,200-96,733,222 , GRCh37.p13 chr1: 97,198,756-97,198,778 PTBP2
    nsv6656984copy number variation1nstd229human GRCh38 chr1: 96,815,648-96,818,268 , GRCh37.p13 chr1: 97,281,204-97,283,824 PTBP2
    nsv6656983copy number variation1nstd229human GRCh38 chr1: 96,807,673-96,820,361 , GRCh37.p13 chr1: 97,273,229-97,285,917 PTBP2
    nsv6656982copy number variation1nstd229human GRCh38 chr1: 96,737,561-96,737,633 , GRCh37.p13 chr1: 97,203,117-97,203,189 PTBP2
    nsv6636421copy number variation1nstd102humanUncertain significance GRCh37 chr1: 96,492,298-98,945,160 , GRCh38.p12 chr1: 96,026,742-98,479,604 NFU1P2, LOC100419654, 22 more genes
    nsv6547775inversion1nstd223human GRCh38 chr1: 96,745,644-96,745,785 , GRCh37.p13 chr1: 97,211,200-97,211,341 PTBP2
    nsv6545313inversion1nstd223human GRCh38 chr1: 96,725,936-96,726,541 , GRCh37.p13 chr1: 97,191,492-97,192,097 PTBP2
    nsv6542151inversion1nstd223human GRCh38 chr1: 96,720,082-96,720,672 , GRCh37.p13 chr1: 97,185,638-97,186,228 PTBP2
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