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Items: 1 to 20 of 309

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7072508inversion1nstd229human GRCh38 chr21: 36,405,251-36,412,590 , GRCh37.p13 chr21: 37,777,549-37,784,888 CHAF1B
    nsv7063164inversion1nstd229human GRCh38 chr21: 36,405,405-36,409,478 , GRCh37.p13 chr21: 37,777,703-37,781,776 CHAF1B
    nsv7061612inversion1nstd229human GRCh38 chr21: 36,157,908-36,403,117 , GRCh37.p13 chr21: 37,530,206-37,775,415 CHAF1B, MORC3, 5 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
    nsv7034449copy number variation1nstd229human GRCh38 chr21: 36,364,401-36,403,100 , GRCh37.p13 chr21: 37,736,699-37,775,398 MORC3, ATP5MFP1, 1 more genes
    nsv7032228copy number variation1nstd229human GRCh38 chr21: 36,402,701-36,407,500 , GRCh37.p13 chr21: 37,774,999-37,779,798 CHAF1B
    nsv7031178copy number variation1nstd229human GRCh38 chr21: 36,110,601-36,501,400 , GRCh37.p13 chr21: 37,482,899-37,873,698 RPS26P1, SRSF9P1, 13 more genes
    nsv7030601copy number variation1nstd229human GRCh38 chr21: 35,965,001-36,553,700 , GRCh37.p13 chr21: 37,337,299-37,925,998 CBR3-AS1, SRSF9P1, 22 more genes
    nsv7024850copy number variation1nstd229human GRCh38 chr21: 36,414,501-36,448,300 , GRCh37.p13 chr21: 37,786,799-37,820,598 CLDN14-AS1, CHAF1B
    nsv7021956copy number variation1nstd229human GRCh38 chr21: 36,134,901-36,492,100 , GRCh37.p13 chr21: 37,507,199-37,864,398 CBR3-AS1, RPS26P1, 10 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6596104inversion1nstd223human GRCh38 chr21: 36,388,488-36,389,594 , GRCh37.p13 chr21: 37,760,786-37,761,892 CHAF1B, ATP5MFP1
    nsv6550838copy number variation1nstd223human GRCh38 chr21: 36,403,441-36,407,297 , GRCh37.p13 chr21: 37,775,739-37,779,595 CHAF1B
    nsv6544798copy number variation1nstd223human GRCh38 chr21: 36,414,501-36,448,249 , GRCh37.p13 chr21: 37,786,799-37,820,547 CLDN14-AS1, CHAF1B
    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
    nsv6287310insertion1nstd214human GRCh38 chr21: 36,401,349-36,401,349 , GRCh37.p13 chr21: 37,773,647-37,773,647 CHAF1B
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