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Items: 1 to 20 of 1269

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3922487copy number variation1nstd102humanPathogenic GRCh37 chr6: 124,437,486-124,820,793 , GRCh38 chr6: 124,116,341-124,499,647 , NCBI36 chr6: 124,479,185-124,862,492 NKAIN2
    nsv3892943copy number variation1nstd102humanPathogenic GRCh38 chr2: 50,710,306-50,999,091 , GRCh37 chr2: 50,937,444-51,226,229 , NCBI36 chr2: 50,790,948-51,079,733 NRXN1
    nsv3917821copy number variation1nstd102humanPathogenic NCBI36 chr7: 68,968,673-69,158,502 , GRCh38 chr7: 69,865,751-70,055,580 , GRCh37 chr7: 69,330,737-69,520,566 AUTS2
    nsv3890859copy number variation1nstd102humanPathogenic GRCh38 chr2: 50,827,235-50,953,482 , GRCh37 chr2: 51,054,373-51,180,620 , NCBI36 chr2: 50,907,877-51,034,124 NRXN1
    nsv6634326copy number variation1nstd102humanPathogenic GRCh37 chr6: 129,376,140-129,458,794 , GRCh38.p12 chr6: 129,054,995-129,137,649 LAMA2
    nsv4349618copy number variation1nstd102humanPathogenic GRCh37 chr7: 83,664,877-83,740,076 , GRCh38.p12 chr7: 84,035,561-84,110,760 SEMA3A
    nsv3912762copy number variation1nstd102humanPathogenic GRCh37 chr22: 34,150,132-34,182,300 , GRCh38 chr22: 33,754,145-33,786,313 , NCBI36 chr22: 32,480,132-32,512,300 LARGE1
    nsv3887265copy number variation1nstd102humanPathogenic GRCh37 chr12: 100,886,254-100,917,988 , GRCh38 chr12: 100,492,476-100,524,210 NR1H4
    nsv7093261copy number variation1nstd102humanPathogenic GRCh38 chr16: 78,375,608-78,407,230 , GRCh37.p13 chr16: 78,409,505-78,441,127 WWOX
    nsv6315171copy number variation1nstd102humanPathogenic GRCh37 chr5: 112,155,123-112,174,165 , GRCh38.p12 chr5: 112,819,426-112,838,468 APC
    nsv6289911copy number variation1nstd102humanPathogenic GRCh38 chr14: 45,002,867-45,015,056 , GRCh37 chr14: 45,472,063-45,484,252 TOGARAM1
    nsv5673749copy number variation1nstd102humanPathogenic GRCh37 chr5: 70,232,101-70,241,078 , GRCh38 chr5: 70,936,274-70,945,251 SMN1
    nsv4728336copy number variation1nstd102humanPathogenic GRCh37 chr17: 48,271,306-48,278,757 , GRCh38.p12 chr17: 50,193,945-50,201,396 COL1A1
    nsv3883550copy number variation1nstd102humanPathogenic GRCh38 chr2: 227,717,535-227,722,344 , GRCh37 chr2: 228,582,251-228,587,060 SLC19A3
    nsv6635991copy number variation1nstd102humanPathogenic GRCh37 chr10: 121,434,542-121,438,222 , GRCh38 chr10: 119,675,030-119,678,710 BAG3
    nsv4578404copy number variation1nstd102humanPathogenic GRCh37 chr19: 7,150,507-7,152,938 , GRCh38 chr19: 7,150,496-7,152,927 INSR
    nsv4675833copy number variation1nstd102humanPathogenic GRCh37 chr6: 5,545,413-5,545,573 , GRCh38.p12 chr6: 5,545,180-5,545,340 FARS2
    nsv7093295copy number variation1nstd102humanPathogenic GRCh38 chrX: 47,576,406-47,576,455 , GRCh37 chrX: 47,435,805-47,435,854 SYN1
    nsv4769271copy number variation1nstd102humanPathogenic GRCh38 chr9: 137,729,444-137,745,563 , GRCh37.p13 chr9: 140,623,896-140,640,015 EHMT1
    nsv6290361copy number variation1nstd102humanPathogenic GRCh37 chr9: 138,660,696-138,660,697 , GRCh38 chr9: 135,768,850-135,768,851 KCNT1
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