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Items: 1 to 20 of 320

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7060386inversion1nstd229human GRCh38 chr21: 34,646,865-38,528,329 , GRCh37.p13 chr21: 36,019,164-39,900,253 , TTC3-AS1, 70 more genes
    nsv7036432copy number variation1nstd229human GRCh38 chr21: 36,716,665-36,718,838 , GRCh37.p13 chr21: 38,088,966-38,091,139 SIM2
    nsv7034975copy number variation1nstd229human GRCh38 chr21: 36,720,117-36,720,661 , GRCh37.p13 chr21: 38,092,418-38,092,962 SIM2
    nsv7033543copy number variation1nstd229human GRCh38 chr21: 36,736,606-36,739,003 , GRCh37.p13 chr21: 38,108,907-38,111,304 SIM2
    nsv7033472copy number variation1nstd229human GRCh38 chr21: 36,725,301-36,727,000 , GRCh37.p13 chr21: 38,097,602-38,099,301 SIM2
    nsv7030776copy number variation1nstd229human GRCh38 chr21: 36,731,317-36,731,342 , GRCh37.p13 chr21: 38,103,618-38,103,643 SIM2
    nsv6637407copy number variation1nstd102humanUncertain significance GRCh37 chr21: 38,104,480-38,165,046 , GRCh38.p12 chr21: 36,732,179-36,792,745 HLCS, SIM2
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599575inversion1nstd223human GRCh38 chr21: 36,496,811-44,407,132 , GRCh37.p13 chr21: 37,869,109-45,827,015 AIRE, CFAP410, 175 more genes
    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
    nsv6311159copy number variation1nstd102humanUncertain significance GRCh37 chr21: 37,507,491-39,212,984 , GRCh38.p12 chr21: 36,135,193-37,840,682 CLDN14-AS1, KCNJ6-AS1, 32 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
    nsv6219945copy number variation1nstd214human GRCh38 chr21: 36,736,793-36,736,858 , GRCh37.p13 chr21: 38,109,094-38,109,159 SIM2
    nsv6134326copy number variation1nstd213human GRCh37 chr21: 37,590,000-38,160,001 , GRCh38.p12 chr21: 36,217,702-36,787,700 MORC3, LOC105369308, 11 more genes
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6043497copy number variation1nstd212human GRCh38 chr21: 36,701,360-36,701,449 , GRCh37.p13 chr21: 38,073,660-38,073,749 LOC107985492, SIM2
    nsv5588666copy number variation1nstd207human GRCh38 chr21: 36,736,752-36,736,805 , GRCh37.p13 chr21: 38,109,053-38,109,106 SIM2
    nsv5564408copy number variation1nstd102humanUncertain significance GRCh37 chr21: 37,833,274-39,212,984 , GRCh38.p12 chr21: 36,460,976-37,840,682 TTC3-AS1, LOC105372798, 23 more genes
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