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Items: 1 to 20 of 326

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5673424copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 44,473,450-44,485,825 , GRCh38.p12 chr21: 43,053,340-43,065,715 CBS
    nsv5673269copy number variation1nstd102humanPathogenic GRCh37 chr21: 44,488,599-44,492,323 , GRCh38.p12 chr21: 43,068,489-43,072,213 CBS
    nsv5673184copy number variation2nstd102humanPathogenic GRCh37 chr21: 44,478,245-44,485,815 , GRCh38.p12 chr21: 43,058,135-43,065,705 CBS
    nsv5671103insertion1nstd207human GRCh38 chr21: 43,057,712-43,057,712 , GRCh37.p13 chr21: 44,477,822-44,477,822 CBS
    nsv5670848insertion1nstd207human GRCh38 chr21: 43,063,074-43,063,074 , GRCh37.p13 chr21: 44,483,184-44,483,184 CBS
    nsv5600842copy number variation1nstd207human GRCh38 chr21: 43,059,102-43,059,151 , GRCh37.p13 chr21: 44,479,212-44,479,261 CBS
    nsv5596678copy number variation1nstd207human GRCh38 chr21: 43,051,602-43,051,738 , GRCh37.p13 chr21: 44,471,712-44,471,848 CBS
    nsv5381796copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 44,473,972-44,480,656 , GRCh38.p12 chr21: 43,053,862-43,060,546 CBS
    nsv5295929copy number variation1nstd204human GRCh38.p13 chr21: 43,035,801-43,055,600 , GRCh37.p13 chr21: 44,455,911-44,475,710 CBS
    nsv5287156copy number variation1nstd204human GRCh38.p13 chr21: 43,034,901-43,571,900 , GRCh37.p13 chr21: 44,455,011-44,991,781 , HSF2BP, 18 more genes
    nsv4869304copy number variation1nstd200human GRCh37 chr21: 44,411,241-44,525,500 , GRCh38.p12 chr21: 42,991,131-43,105,390 CBS, U2AF1, 1 more genes
    nsv4865880copy number variation1nstd200human GRCh37 chr21: 44,480,335-44,482,692 , GRCh38.p12 chr21: 43,060,225-43,062,582 CBS
    nsv4865879copy number variation1nstd200human GRCh37 chr21: 44,449,644-44,484,462 , GRCh38.p12 chr21: 43,029,534-43,064,352 PKNOX1, CBS
    nsv4863400copy number variation1nstd200human GRCh37 chr21: 44,496,119-44,498,410 , GRCh38.p12 chr21: 43,076,009-43,078,300 CBS
    nsv4863399copy number variation1nstd200human GRCh37 chr21: 44,483,747-44,483,811 , GRCh38.p12 chr21: 43,063,637-43,063,701 CBS
    nsv4863398copy number variation1nstd200human GRCh37 chr21: 44,479,209-44,479,269 , GRCh38.p12 chr21: 43,059,099-43,059,159 CBS
    nsv4765413insertion1nstd199human GRCh37 chr21: 44,483,176-44,483,176 , GRCh38.p12 chr21: 43,063,066-43,063,066 CBS
    nsv4751691insertion1nstd199human GRCh37 chr21: 44,477,865-44,477,865 , GRCh38.p12 chr21: 43,057,755-43,057,755 CBS
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
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