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Items: 1 to 20 of 273

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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
    nsv7034178copy number variation1nstd229human GRCh38 chr21: 41,381,334-42,127,138 , GRCh37.p13 chr21: 42,753,261-43,547,248 SNORA91, UMODL1, 20 more genes
    nsv7032335copy number variation1nstd229human GRCh38 chr21: 42,009,601-42,283,700 , GRCh37.p13 chr21: 43,429,710-43,703,810 ABCG1, ZBTB21, 6 more genes
    nsv7027707copy number variation1nstd229human GRCh38 chr21: 42,100,643-42,107,509 , GRCh37.p13 chr21: 43,520,753-43,527,619 UMODL1, UMODL1-AS1
    nsv7025549copy number variation1nstd229human GRCh38 chr21: 42,075,707-42,200,578 , GRCh37.p13 chr21: 43,495,816-43,620,688 ABCG1, UMODL1, 1 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
    nsv7021653copy number variation1nstd229human GRCh38 chr21: 42,089,974-42,163,450 , GRCh37.p13 chr21: 43,510,084-43,583,560 UMODL1, UMODL1-AS1
    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
    nsv6544333copy number variation1nstd223human GRCh38 chr21: 42,075,707-42,200,575 , GRCh37.p13 chr21: 43,495,816-43,620,685 ABCG1, UMODL1-AS1, 1 more genes
    nsv6540186copy number variation1nstd223human GRCh38 chr21: 42,098,001-42,101,591 , GRCh37.p13 chr21: 43,518,111-43,521,701 UMODL1, UMODL1-AS1
    nsv6539549copy number variation1nstd223human GRCh38 chr21: 42,108,835-42,108,919 , GRCh37.p13 chr21: 43,528,945-43,529,029 UMODL1-AS1, UMODL1
    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
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