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Items: 1 to 20 of 232

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095919copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,079,578-37,133,458 , GRCh38.p12 chr21: 34,707,280-35,761,160 RUNX1, EZH2P1, 9 more genes
    nsv7095809copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,252,834-36,421,595 , GRCh38.p12 chr21: 34,880,537-35,049,298 RUNX1, RUNX1-IT1
    nsv7075861inversion1nstd229human GRCh38 chr21: 32,596,447-36,013,453 , GRCh37.p13 chr21: 33,968,757-37,385,751 , IFNAR2, 64 more genes
    nsv7070554inversion1nstd229human GRCh38 chr21: 28,138,154-35,660,050 , GRCh37.p13 chr21: 29,510,473-37,032,348 , OR7E23P, 160 more genes
    nsv7070253inversion1nstd229human GRCh38 chr21: 28,377,443-35,730,342 , GRCh37.p13 chr21: 29,749,764-37,102,640 , HUNK, 161 more genes
    nsv7060386inversion1nstd229human GRCh38 chr21: 34,646,865-38,528,329 , GRCh37.p13 chr21: 36,019,164-39,900,253 , TTC3-AS1, 70 more genes
    nsv7019966copy number variation1nstd229human GRCh38 chr21: 35,030,059-35,066,150 , GRCh37.p13 chr21: 36,402,356-36,438,447 RUNX1-IT1, RUNX1
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6596327inversion1nstd223human GRCh38 chr21: 28,377,391-35,730,332 , GRCh37.p13 chr21: 29,749,712-37,102,630 , LOC107985515, 161 more genes
    nsv6542085copy number variation1nstd223human GRCh38 chr21: 35,030,058-35,066,149 , GRCh37.p13 chr21: 36,402,355-36,438,446 RUNX1-IT1, RUNX1
    nsv6315551copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,420,615-48,080,926 , GRCh38.p12 chr21: 13,048,294-46,661,014 LTN1, LOC105372740, 622 more genes
    nsv6313951copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,041,209-48,097,372 , GRCh38.p12 chr21: 13,668,888-46,677,460 LOC107985515, ATP5PF, 606 more genes
    nsv6311248copy number variation2nstd102humanUncertain significance GRCh37 chr21: 32,439,271-39,212,984 , GRCh38.p12 chr21: 31,066,952-37,840,682 ATP5PO, LOC105372789, 131 more genes
    nsv6290141copy number variation1nstd102humanLikely pathogenic GRCh38 chr21: 34,799,252-36,071,979 , GRCh37.p13 chr21: 36,171,549-37,444,277 RUNX1, CBR1, 16 more genes
    nsv6289996copy number variation1nstd102humanPathogenic GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 KRTAP7-1, MAP3K7CL, 656 more genes
    nsv6134061copy number variation1nstd213human GRCh37 chr21: 35,990,000-36,660,001 , GRCh38.p12 chr21: 34,617,701-35,287,703 , RUNX1, 5 more genes
    nsv6134054copy number variation1nstd213human GRCh37 chr21: 15,200,000-37,410,001 , GRCh38.p12 chr21: 13,827,679-36,037,703 , ATP5PF, 320 more genes
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5696485mobile element insertion1nstd211human GRCh38 chr21: 35,036,208-35,036,208 , GRCh37.p13 chr21: 36,408,505-36,408,505 RUNX1-IT1, RUNX1
    nsv5673333copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,164,426-36,421,202 , GRCh38.p12 chr21: 34,792,129-35,048,905 RUNX1-IT1, RUNX1
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