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Items: 1 to 20 of 785

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112715copy number variation1nstd102humanPathogenic GRCh37 chr2: 110,880,925-110,962,590 , GRCh38.p12 chr2: 110,123,348-110,205,013 NPHP1, ACTR1AP1
    nsv6112706copy number variation1nstd102humanPathogenic GRCh37 chr2: 110,880,893-110,962,659 , GRCh38.p12 chr2: 110,123,316-110,205,082 NPHP1, ACTR1AP1
    nsv5980436copy number variation1nstd102humanBenign GRCh37 chr2: 110,881,368-110,937,261 , GRCh38.p12 chr2: 110,123,791-110,179,684 NPHP1
    nsv5885172copy number variation1nstd209human GRCh38 chr2: 110,199,996-110,200,301 , GRCh37.p13 chr2: 110,957,573-110,957,878 NPHP1
    nsv5830893copy number variation2nstd209human GRCh38 chr2: 110,168,242-110,171,577 , GRCh37.p13 chr2: 110,925,819-110,929,154 NPHP1
    nsv5830892copy number variation2nstd209human GRCh38 chr2: 110,138,744-110,141,771 , GRCh37.p13 chr2: 110,896,321-110,899,348 NPHP1
    nsv5673448copy number variation2nstd102humanPathogenic, Benign GRCh37 chr2: 110,879,913-110,963,639 , GRCh38.p12 chr2: 110,122,336-110,206,062 NPHP1, ACTR1AP1
    nsv5673369copy number variation1nstd102humanLikely benign GRCh37 chr2: 110,922,097-110,962,545 , GRCh38.p12 chr2: 110,164,520-110,204,968 ACTR1AP1, NPHP1
    nsv5670764inversion1nstd207human GRCh38 chr2: 110,095,328-110,276,209 , GRCh37.p13 chr2: 110,852,905-111,033,786 NPHP1, MALL, 3 more genes
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5453560copy number variation1nstd206human GRCh38 chr2: 110,137,618-110,196,000 , GRCh37.p13 chr2: 110,895,195-110,953,577 NPHP1, ACTR1AP1
    nsv5444675copy number variation1nstd206human GRCh38 chr2: 110,047,618-110,274,704 , GRCh37.p13 chr2: 110,805,195-111,032,281 NPHP1, MALL, 6 more genes
    nsv5442426copy number variation1nstd206human GRCh38 chr2: 109,913,618-110,441,618 , GRCh37.p13 chr2: 110,671,195-111,199,195 LIMS3-LOC440895, LOC105373547, 28 more genes
    nsv5442263copy number variation1nstd206human GRCh38 chr2: 110,187,652-110,188,317 , GRCh37.p13 chr2: 110,945,229-110,945,894 NPHP1
    nsv5436824copy number variation1nstd206human GRCh38 chr2: 110,057,618-110,259,618 , GRCh37.p13 chr2: 110,815,195-111,017,195 NPHP1, MALL, 5 more genes
    nsv5435509copy number variation1nstd206human GRCh38 chr2: 109,743,550-110,910,000 , GRCh37.p13 chr2: 110,501,127-111,667,577 MIR4436B2, LOC112268438, 40 more genes
    nsv5380573translocation1nstd200human GRCh38 chr2: 110,144,278-110,144,278 , GRCh38 chr2: 110,148,549-110,148,549 , GRCh37.p13 chr2: 110,901,855-110,901,855 , GRCh37.p13 chr2: 110,906,126-110,906,126 NPHP1
    nsv5210423copy number variation1nstd204human GRCh38.p13 chr2: 110,062,761-110,159,571 , GRCh37.p13 chr2: 110,820,338-110,917,148 MALL, MIR4267, 2 more genes
    nsv5210263copy number variation1nstd204human GRCh38.p13 chr2: 110,128,174-110,129,573 , GRCh37.p13 chr2: 110,885,751-110,887,150 NPHP1
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