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Items: 1 to 20 of 224

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6126661copy number variation1nstd186human GRCh37 chr22: 43,014,313-43,014,556 , GRCh38.p12 chr22: 42,618,307-42,618,550 CYB5R3
    nsv5972460insertion1nstd209human GRCh38 chr22: 42,638,728-42,638,728 , GRCh37.p13 chr22: 43,034,734-43,034,734 ATP5MGL, CYB5R3
    nsv5698782mobile element insertion1nstd211human GRCh38 chr22: 42,643,238-42,643,238 , GRCh37.p13 chr22: 43,039,244-43,039,244 CYB5R3
    nsv5673276copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,440,000-43,780,000 , GRCh38.p12 chr22: 42,043,996-43,383,994 RPL5P34, ARFGAP3, 48 more genes
    nsv5593911copy number variation1nstd207human GRCh38 chr22: 42,634,572-42,634,750 , GRCh37.p13 chr22: 43,030,578-43,030,756 CYB5R3
    nsv5550563copy number variation1nstd206human GRCh38 chr22: 42,640,245-42,640,322 , GRCh37.p13 chr22: 43,036,251-43,036,328 ATP5MGL, CYB5R3
    nsv5543528copy number variation1nstd206human GRCh38 chr22: 42,642,320-42,642,379 , GRCh37.p13 chr22: 43,038,326-43,038,385 CYB5R3
    nsv5542750copy number variation1nstd206human GRCh38 chr22: 42,618,307-42,618,550 , GRCh37.p13 chr22: 43,014,313-43,014,556 CYB5R3
    nsv5429234mobile element insertion1nstd206human GRCh38 chr22: 42,643,238-42,643,289 , GRCh37.p13 chr22: 43,039,244-43,039,295 CYB5R3
    nsv5391193copy number variation1nstd186human GRCh37 chr22: 43,030,653-43,030,872 , GRCh38.p12 chr22: 42,634,647-42,634,866 CYB5R3
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5381088copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,356,886-43,684,002 , GRCh38.p12 chr22: 41,960,882-43,287,996 CYP2D8P, SCUBE1, 49 more genes
    nsv5360607translocation1nstd200human GRCh38 chr22: 42,617,035-42,617,035 , GRCh38 chr22: 42,615,470-42,615,470 , GRCh37.p13 chr22: 43,011,476-43,011,476 , GRCh37.p13 chr22: 43,013,041-43,013,041 CYB5R3, RNU12
    nsv5322467copy number variation1nstd204human GRCh38.p13 chr22: 42,634,616-42,634,824 , GRCh37.p13 chr22: 43,030,622-43,030,830 CYB5R3
    nsv5173519mobile element insertion1nstd203human GRCh38 chr22: 42,647,573-42,647,575 , GRCh37.p13 chr22: 43,043,579-43,043,581 CYB5R3
    nsv5160139mobile element insertion1nstd203human GRCh38 chr22: 42,634,617-42,634,617 , GRCh37.p13 chr22: 43,030,623-43,030,623 CYB5R3
    nsv5039304copy number variation1nstd200human GRCh38 chr22: 42,638,220-42,639,356 , GRCh37.p13 chr22: 43,034,226-43,035,362 CYB5R3, ATP5MGL
    nsv5032425inversion1nstd200human GRCh38 chr22: 41,452,969-44,153,937 , GRCh37.p13 chr22: 41,848,973-44,549,817 , LOC101927393, 95 more genes
    nsv4885211copy number variation1nstd200human GRCh37 chr22: 42,960,073-43,195,711 , GRCh38.p12 chr22: 42,564,067-42,799,705 RN7SKP80, A4GALT, 12 more genes
    nsv4874369copy number variation1nstd200human GRCh37 chr22: 43,015,006-43,054,737 , GRCh38.p12 chr22: 42,619,000-42,658,731 ATP5MGL, CYB5R3
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