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Items: 1 to 20 of 292

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145594insertion1nstd232human GRCh37.p13 chr21: 45,194,213-45,194,213 , GRCh38.p12 chr21: 43,774,332-43,774,332 CSTB
    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
    nsv7076046inversion1nstd229human GRCh38 chr21: 42,633,367-44,550,173 , GRCh37.p13 chr21: 44,053,477-45,916,560 MYL6P1, MIR5692B, 68 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
    nsv7069942inversion1nstd229human GRCh38 chr21: 43,774,754-43,786,735 , GRCh37.p13 chr21: 45,194,635-45,206,616 CSTB, LOC105372825, 1 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
    nsv7032999copy number variation1nstd229human GRCh38 chr21: 43,776,467-43,782,328 , GRCh37.p13 chr21: 45,196,348-45,202,209 CSTB, LOC105372825, 1 more genes
    nsv7032059copy number variation1nstd229human GRCh38 chr21: 43,207,013-43,892,998 , GRCh37.p13 chr21: 44,627,123-45,312,879 RPL31P1, LINC03039, 19 more genes
    nsv7023302copy number variation1nstd229human GRCh38 chr21: 43,763,849-43,908,404 , GRCh37.p13 chr21: 45,183,730-45,328,285 RRP1, CSTB, 5 more genes
    nsv7019967copy number variation1nstd229human GRCh38 chr21: 43,774,771-43,774,970 , GRCh37.p13 chr21: 45,194,652-45,194,851 CSTB
    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
    nsv6627019copy number variation1nstd224human GRCh37 chr21: 45,106,786-45,214,581 , GRCh38.p12 chr21: 43,686,905-43,794,700 CSTB, PDXK, 5 more genes
    nsv6626648copy number variation1nstd224human GRCh37 chr21: 45,106,786-45,215,136 , GRCh38.p12 chr21: 43,686,905-43,795,255 CSTB, PDXK, 5 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
    nsv6599512inversion1nstd223human GRCh38 chr21: 43,690,612-45,780,509 , GRCh37.p13 chr21: 45,110,493-47,200,423 ADARB1, AIRE, 84 more genes
    nsv6599116inversion1nstd223human GRCh38 chr21: 43,689,244-45,912,414 , GRCh37.p13 chr21: 45,109,125-47,332,328 ADARB1, AIRE, 85 more genes
    nsv6544748copy number variation1nstd223human GRCh38 chr21: 43,772,365-43,773,046 , GRCh37.p13 chr21: 45,192,246-45,192,927 CSTB
    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
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