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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5926381copy number variation1nstd209human GRCh38 chr12: 32,745,695-32,745,760 , GRCh37.p13 chr12: 32,898,629-32,898,694 DNM1L, YARS2
    nsv5910490copy number variation1nstd209human GRCh38 chr12: 32,727,281-32,727,337 , GRCh37.p13 chr12: 32,880,215-32,880,271 DNM1L, YARS2, 1 more genes
    nsv5848266copy number variation1nstd209human GRCh38 chr12: 32,733,686-32,736,142 , GRCh37.p13 chr12: 32,886,620-32,889,076 DNM1L, YARS2
    nsv5564293copy number variation1nstd102humanUncertain significance GRCh37 chr12: 32,772,622-33,049,675 , GRCh38.p12 chr12: 32,619,688-32,896,741 PKP2, LOC100420981, 4 more genes
    nsv5562828inversion1nstd206human GRCh38 chr12: 32,724,568-32,724,709 , GRCh37.p13 chr12: 32,877,502-32,877,643 DNM1L, YARS2, 1 more genes
    nsv5509992copy number variation1nstd206human GRCh38 chr12: 32,745,696-32,745,761 , GRCh37.p13 chr12: 32,898,630-32,898,695 YARS2, DNM1L
    nsv5324788translocation1nstd204human GRCh37.p13 chr12: 32,898,695-32,898,695 , GRCh37.p13 chr12: 32,898,630-32,898,630 , GRCh38.p13 chr12: 32,745,761-32,745,761 , GRCh38.p13 chr12: 32,745,696-32,745,696 DNM1L, YARS2
    nsv5306994copy number variation1nstd204human GRCh38.p13 chr12: 32,747,496-32,755,274 , GRCh37.p13 chr12: 32,900,430-32,908,208 YARS2
    nsv5264876copy number variation1nstd204human GRCh38.p13 chr12: 32,746,439-32,755,191 , GRCh37.p13 chr12: 32,899,373-32,908,125 YARS2
    nsv5263746copy number variation1nstd204human GRCh38.p13 chr12: 32,747,239-32,754,891 , GRCh37.p13 chr12: 32,900,173-32,907,825 YARS2
    nsv5262797copy number variation1nstd204human GRCh38.p13 chr12: 32,747,414-32,755,741 , GRCh37.p13 chr12: 32,900,348-32,908,675 YARS2
    nsv4981944copy number variation1nstd200human GRCh38 chr12: 32,747,506-32,755,268 , GRCh37.p13 chr12: 32,900,440-32,908,202 YARS2
    nsv4843785copy number variation1nstd200human GRCh37 chr12: 32,900,440-32,908,202 , GRCh38.p12 chr12: 32,747,506-32,755,268 YARS2
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4729009copy number variation1nstd102humanUncertain significance GRCh37 chr12: 32,874,959-33,060,511 , GRCh38.p12 chr12: 32,722,025-32,907,577 PKP2, RPL35AP27, 3 more genes
    nsv4708628copy number variation1nstd195human GRCh37 chr12: 32,871,101-33,109,401 , GRCh38.p12 chr12: 32,718,167-32,956,467 PKP2, DNM1L, 3 more genes
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 LOC105376675, ATF7IP, 682 more genes
    nsv4646058copy number variation1nstd186human GRCh37 chr12: 32,898,630-32,898,695 , GRCh38.p12 chr12: 32,745,696-32,745,761 DNM1L, YARS2
    nsv4612571copy number variation1nstd183human GRCh37 chr12: 32,896,141-32,896,644 , GRCh38.p12 chr12: 32,743,207-32,743,710 DNM1L, YARS2
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