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Items: 1 to 20 of 254

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096096copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 43,160,998-47,754,702 , GRCh38.p12 chr21: 41,740,838-46,334,788 TSPEAR, LINC01424, 158 more genes
    nsv7072799inversion1nstd229human GRCh38 chr21: 41,886,117-43,786,596 , GRCh37.p13 chr21: 43,306,226-45,206,477 ZNF295-AS1, LINC01668, 57 more genes
    nsv7064889inversion1nstd229human GRCh38 chr21: 41,632,756-44,900,321 , GRCh37.p13 chr21: 43,052,916-46,320,236 RNU6-1150P, LOC105372824, 123 more genes
    nsv7037230copy number variation1nstd229human GRCh38 chr21: 42,343,797-42,376,842 , GRCh37.p13 chr21: 43,763,906-43,796,951 TFF1, LOC105372815, 2 more genes
    nsv7032833copy number variation1nstd229human GRCh38 chr21: 42,159,460-42,379,095 , GRCh37.p13 chr21: 43,579,570-43,799,204 TFF1, TFF2, 6 more genes
    nsv7027011copy number variation1nstd229human GRCh38 chr21: 42,282,878-43,017,165 , GRCh37.p13 chr21: 43,702,988-44,437,275 LOC105372817, RNU6-1149P, 23 more genes
    nsv7024099copy number variation1nstd229human GRCh38 chr21: 41,989,601-42,863,900 , GRCh37.p13 chr21: 43,409,710-44,284,010 PDE9A, RNA5SP492, 25 more genes
    nsv7019948copy number variation1nstd229human GRCh38 chr21: 40,558,832-43,971,067 , GRCh37.p13 chr21: 41,930,759-45,390,948 LOC105372821, PDXK, 86 more genes
    nsv6637459copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,046,399-45,109,188 , GRCh38.p12 chr21: 40,674,473-43,689,307 LOC101928255, RRP1B, 74 more genes
    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
    nsv6597481inversion1nstd223human GRCh38 chr21: 42,077,533-42,936,821 , GRCh37.p13 chr21: 43,497,642-44,356,931 TFF1, LOC107985504, 25 more genes
    nsv6554399copy number variation1nstd223human GRCh38 chr21: 42,349,287-42,349,387 , GRCh37.p13 chr21: 43,769,396-43,769,496 TFF2, LOC105372815
    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
    nsv6315496copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,679,089-48,097,372 , GRCh38.p12 chr21: 41,307,162-46,677,460 TMEM97P1, LOC105372839, 177 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
    nsv6311066copy number variation4nstd102humanPathogenic, Uncertain significance GRCh37 chr21: 43,160,998-47,865,240 , GRCh38.p12 chr21: 41,740,838-46,445,327 TSPEAR-AS2, PSMA6P3, 159 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
    nsv6277334copy number variation1nstd214human GRCh38 chr21: 42,349,016-42,349,117 , GRCh37.p13 chr21: 43,769,125-43,769,226 TFF2
    nsv6134329copy number variation1nstd213human GRCh37 chr21: 43,760,000-44,080,001 , GRCh38.p12 chr21: 42,339,891-42,659,891 TFF1, RSPH1, 12 more genes
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