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Items: 1 to 20 of 308

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146310copy number variation1nstd232human GRCh37.p13 chr21: 34,876,621-34,876,716 , GRCh38.p12 chr21: 33,504,314-33,504,409 , GRCh38.p12 chr21|NW_003315970.2: 108,444-108,539 GART
    nsv7138377insertion1nstd232human GRCh37.p13 chr21: 34,889,915-34,889,915 , GRCh38.p12 chr21: 33,517,608-33,517,608 GART, BTF3P6
    nsv7137725insertion1nstd232human GRCh37.p13 chr21: 34,882,232-34,882,232 , GRCh38.p12 chr21: 33,509,925-33,509,925 , GRCh38.p12 chr21|NW_003315970.2: 114,055-114,055 GART
    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
    nsv7034707copy number variation1nstd229human GRCh38 chr21: 33,536,279-33,541,290 , GRCh37.p13 chr21: 34,908,585-34,913,596 SON, GART
    nsv7031898copy number variation1nstd229human GRCh38 chr21: 33,527,308-33,530,282 , GRCh37.p13 chr21: 34,899,614-34,902,588 GART
    nsv7029936copy number variation1nstd229human GRCh38 chr21: 33,512,682-33,516,781 , GRCh37.p13 chr21: 34,884,989-34,889,088 GART, BTF3P6
    nsv7025525copy number variation1nstd229human GRCh38 chr21: 33,538,517-33,540,244 , GRCh37.p13 chr21: 34,910,823-34,912,550 GART
    nsv7023201copy number variation1nstd229human GRCh38 chr21: 33,523,701-33,526,500 , GRCh37.p13 chr21: 34,896,008-34,898,806 GART
    nsv6637178copy number variation1nstd102humanPathogenic GRCh37 chr21: 34,909,697-34,931,454 , GRCh38.p12 chr21: 33,537,391-33,559,148 GART, SON, 1 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6598651inversion1nstd223human GRCh38 chr21: 33,533,644-33,534,397 , GRCh37.p13 chr21: 34,905,950-34,906,703 GART
    nsv6598291inversion1nstd223human GRCh38 chr21: 33,529,482-33,530,177 , GRCh37.p13 chr21: 34,901,788-34,902,483 GART
    nsv6598214inversion1nstd223human GRCh38 chr21: 33,507,955-33,508,065 , GRCh37.p13 chr21: 34,880,262-34,880,372 GART
    nsv6596374inversion1nstd223human GRCh38 chr21: 33,507,587-33,508,578 , GRCh37.p13 chr21: 34,879,894-34,880,885 GART
    nsv6596327inversion1nstd223human GRCh38 chr21: 28,377,391-35,730,332 , GRCh37.p13 chr21: 29,749,712-37,102,630 , LOC107985515, 161 more genes
    nsv6596172inversion1nstd223human GRCh38 chr21: 33,533,461-33,534,230 , GRCh37.p13 chr21: 34,905,767-34,906,536 GART
    nsv6545914copy number variation1nstd223human GRCh38 chr21: 33,541,301-33,549,400 , GRCh37.p13 chr21: 34,913,607-34,921,706 SON, GART, 1 more genes
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