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Items: 1 to 20 of 164

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096580copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,908,336-166,920,943 , GRCh38.p12 chr2: 166,051,826-166,064,433 SCN1A
    nsv3880346copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,894,421-166,903,728 , GRCh38.p12 chr2: 166,037,911-166,047,218 SCN1A
    nsv4453111copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,900,200-166,907,805 , GRCh38 chr2: 166,043,690-166,051,295 SCN1A
    nsv6311617copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,909,397-166,913,500 , GRCh38.p12 chr2: 166,052,887-166,056,990 SCN1A
    nsv7096209copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,897,758-166,901,790 , GRCh38.p12 chr2: 166,041,248-166,045,280 SCN1A
    nsv7095865copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,909,342-166,913,030 , GRCh38.p12 chr2: 166,052,832-166,056,520 SCN1A
    nsv4681273copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,898,782-166,900,579 , GRCh38.p12 chr2: 166,042,272-166,044,069 SCN1A
    nsv3888724copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,907,827-166,909,401 , GRCh38 chr2: 166,051,317-166,052,891 SCN1A
    nsv7096578copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,894,266-166,894,662 , GRCh38.p12 chr2: 166,037,756-166,038,152 SCN1A
    nsv4681152copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,929,848-166,930,151 , GRCh38.p12 chr2: 166,073,338-166,073,641 SCN1A
    nsv6311330copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,929,827-166,930,058 , GRCh38 chr2: 166,073,317-166,073,548 SCN1A
    nsv4681245copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,909,342-166,909,544 , GRCh38.p12 chr2: 166,052,832-166,053,034 SCN1A
    nsv3873715copy number variation1nstd102humanPathogenic GRCh38 chr2: 166,054,638-166,054,766 , GRCh37 chr2: 166,911,148-166,911,276 SCN1A
    nsv4684019copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,915,080-166,915,198 , GRCh38.p12 chr2: 166,058,570-166,058,688 SCN1A
    nsv6311543copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,905,376-166,905,479 , GRCh38.p12 chr2: 166,048,866-166,048,969 SCN1A
    nsv7093545insertion1nstd102humanPathogenic GRCh37 chr2: 166,908,226-166,908,226 , GRCh38 chr2: 166,051,716-166,051,716 SCN1A
    nsv3884637copy number variation1nstd102humanBenign GRCh37 chr2: 166,905,572-166,911,685 , GRCh38.p12 chr2: 166,049,062-166,055,175 SCN1A
    nsv3889605copy number variation1nstd102humanBenign GRCh37 chr2: 166,905,375-166,909,104 , GRCh38.p12 chr2: 166,048,865-166,052,594 SCN1A
    nsv7093544insertion1nstd102humanUncertain significance GRCh38 chr2: 166,051,714-166,051,714 , GRCh37 chr2: 166,908,224-166,908,224 SCN1A
    nsv6314370insertion1nstd102humanUncertain significance GRCh38 chr1: 151,612,201-151,612,201 , GRCh37 chr1: 151,584,677-151,584,677 SNX27
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