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Items: 1 to 20 of 122

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7057811inversion1nstd229human GRCh38 chr1: 37,481,459-37,484,566 , GRCh37.p13 chr1: 37,947,060-37,950,167 ZC3H12A
    nsv7046918inversion1nstd229human GRCh38 chr1: 34,689,928-38,980,899 , GRCh37.p13 chr1: 35,155,529-39,446,571 LOC105378647, NCDN, 112 more genes
    nsv7040332inversion1nstd229human GRCh38 chr1: 34,936,903-38,057,517 , GRCh37.p13 chr1: 35,402,504-38,523,189 MAP7D1, RPL12P45, 83 more genes
    nsv6554230inversion1nstd223human GRCh38 chr1: 37,481,459-37,484,570 , GRCh37.p13 chr1: 37,947,060-37,950,171 ZC3H12A
    nsv6313765copy number variation1nstd102humanUncertain significance GRCh37 chr1: 36,041,366-39,112,237 , GRCh38.p12 chr1: 35,575,765-38,646,565 RNU6-510P, AGO3, 78 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5607788insertion1nstd207human GRCh38 chr1: 37,481,481-37,481,481 , GRCh37.p13 chr1: 37,947,082-37,947,082 ZC3H12A
    nsv5559394sequence alteration1nstd206human GRCh38 chr1: 37,481,458-37,484,570 , GRCh37.p13 chr1: 37,947,059-37,950,171 ZC3H12A
    nsv5323678translocation1nstd204human GRCh38.p13 chr1: 37,481,459-37,481,459 , GRCh38.p13 chr1: 37,484,570-37,484,570 , GRCh37.p13 chr1: 37,947,060-37,947,060 , GRCh37.p13 chr1: 37,950,171-37,950,171 ZC3H12A
    nsv5322708translocation1nstd204human GRCh38.p13 chr1: 37,481,487-37,481,487 , GRCh38.p13 chr1: 37,484,447-37,484,447 , GRCh37.p13 chr1: 37,947,088-37,947,088 , GRCh37.p13 chr1: 37,950,048-37,950,048 ZC3H12A
    nsv5072964mobile element insertion1nstd203human GRCh38 chr1: 37,472,655-37,472,655 , GRCh37.p13 chr1: 37,938,256-37,938,256 LITATS1, ZC3H12A
    nsv5072369mobile element insertion1nstd203human GRCh38 chr1: 37,472,775-37,472,775 , GRCh37.p13 chr1: 37,938,376-37,938,376 ZC3H12A, LITATS1
    nsv5069946mobile element insertion1nstd203human GRCh38 chr1: 37,472,772-37,472,772 , GRCh37.p13 chr1: 37,938,373-37,938,373 ZC3H12A, LITATS1
    nsv5060746mobile element insertion1nstd203human GRCh38 chr1: 37,472,770-37,472,770 , GRCh37.p13 chr1: 37,938,371-37,938,371 LITATS1, ZC3H12A
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4535156insertion1nstd166human GRCh37.p13 chr1: 37,947,060-37,947,060 , GRCh38.p12 chr1: 37,481,459-37,481,459 ZC3H12A
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