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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5878054copy number variation1nstd209human GRCh38 chr1: 171,546,757-171,546,908 , GRCh37.p13 chr1: 171,515,896-171,516,047 PRRC2C
    nsv5681104mobile element insertion1nstd211human GRCh38 chr1: 171,490,385-171,490,385 , GRCh37.p13 chr1: 171,459,524-171,459,524 PRRC2C
    nsv5608283insertion1nstd207human GRCh38 chr1: 171,528,432-171,528,432 , GRCh37.p13 chr1: 171,497,571-171,497,571 PRRC2C
    nsv5431501copy number variation1nstd206human GRCh38 chr1: 171,506,526-171,506,607 , GRCh37.p13 chr1: 171,475,665-171,475,746 PRRC2C
    nsv5429440copy number variation1nstd206human GRCh38 chr1: 171,526,590-171,528,575 , GRCh37.p13 chr1: 171,495,729-171,497,714 PRRC2C
    nsv5396809mobile element insertion1nstd206human GRCh38 chr1: 171,490,385-171,490,436 , GRCh37.p13 chr1: 171,459,524-171,459,575 RN7SL425P, PRRC2C
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5364147translocation1nstd200human GRCh38 chr1: 171,592,757-171,592,757 , GRCh38 chr3: 1,199,714-1,199,714 , GRCh37.p13 chr1: 171,561,896-171,561,896 , GRCh37.p13 chr3: 1,241,398-1,241,398 CNTN6, PRRC2C
    nsv5364141translocation1nstd200human GRCh38 chr1: 171,529,764-171,529,764 , GRCh38 chr2: 133,036,605-133,036,605 , GRCh37.p13 chr2: 133,794,178-133,794,178 , GRCh37.p13 chr1: 171,498,903-171,498,903 NCKAP5, PRRC2C
    nsv5342195translocation1nstd200human GRCh37 chr1: 171,498,903-171,498,903 , GRCh37 chr2: 133,794,178-133,794,178 , GRCh38.p12 chr2: 133,036,605-133,036,605 , GRCh38.p12 chr1: 171,529,764-171,529,764 PRRC2C, NCKAP5
    nsv5338701translocation1nstd200human GRCh37 chr1: 171,498,902-171,498,902 , GRCh37 chr2: 133,794,901-133,794,901 , GRCh38.p12 chr1: 171,529,763-171,529,763 , GRCh38.p12 chr2: 133,037,328-133,037,328 NCKAP5, PRRC2C
    nsv5074218mobile element insertion1nstd203human GRCh38 chr1: 171,586,599-171,586,620 , GRCh37.p13 chr1: 171,555,738-171,555,759 PRRC2C
    nsv5063577mobile element insertion1nstd203human GRCh38 chr1: 171,530,251-171,530,267 , GRCh37.p13 chr1: 171,499,390-171,499,406 PRRC2C
    nsv4904025copy number variation1nstd200human GRCh38 chr1: 171,526,589-171,528,584 , GRCh37.p13 chr1: 171,495,728-171,497,723 PRRC2C
    nsv4898027copy number variation1nstd200human GRCh38 chr1: 171,562,200-171,562,255 , GRCh37.p13 chr1: 171,531,339-171,531,394 PRRC2C
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4594077copy number variation1nstd183human GRCh37 chr1: 171,016,086-171,726,961 , GRCh38.p12 chr1: 171,046,945-171,757,821 MYOCOS, PFN1P1, 23 more genes
    nsv4579979copy number variation1nstd183human GRCh37 chr1: 171,557,154-171,719,518 , GRCh38.p12 chr1: 171,588,015-171,750,378 MYOC, VAMP4, 5 more genes
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