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Items: 1 to 20 of 322

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7041761inversion1nstd229human GRCh38 chr2: 161,208,254-165,696,625 , GRCh37.p13 chr2: 162,064,765-166,553,135 SCN3A, LOC101929532, 45 more genes
    nsv7039552inversion1nstd229human GRCh38 chr2: 161,275,467-165,696,611 , GRCh37.p13 chr2: 162,131,978-166,553,121 LOC105373722, EIF3EP3, 42 more genes
    nsv6692728copy number variation1nstd229human GRCh38 chr2: 164,917,438-164,917,512 , GRCh37.p13 chr2: 165,773,948-165,774,022 SLC38A11
    nsv6686653copy number variation1nstd229human GRCh38 chr2: 164,933,236-164,936,717 , GRCh37.p13 chr2: 165,789,746-165,793,227 SLC38A11
    nsv6685600copy number variation1nstd229human GRCh38 chr2: 164,945,979-164,947,989 , GRCh37.p13 chr2: 165,802,489-165,804,499 SLC38A11
    nsv6682657copy number variation1nstd229human GRCh38 chr2: 164,932,442-164,937,267 , GRCh37.p13 chr2: 165,788,952-165,793,777 SLC38A11
    nsv6681919copy number variation1nstd229human GRCh38 chr2: 164,951,038-165,017,231 , GRCh37.p13 chr2: 165,807,548-165,873,741 SLC38A11
    nsv6627776copy number variation1nstd224human GRCh37 chr2: 165,765,194-165,991,766 , GRCh38.p12 chr2: 164,908,684-165,135,256 SLC38A11, SCN3A
    nsv6551691inversion1nstd223human GRCh38 chr2: 164,946,322-164,947,129 , GRCh37.p13 chr2: 165,802,832-165,803,639 SLC38A11
    nsv6353412copy number variation1nstd223human GRCh38 chr2: 164,907,561-164,908,229 , GRCh37.p13 chr2: 165,764,071-165,764,739 SLC38A11
    nsv6347114copy number variation1nstd223human GRCh38 chr2: 164,899,301-164,900,200 , GRCh37.p13 chr2: 165,755,811-165,756,710 SLC38A11
    nsv6346822copy number variation1nstd223human GRCh38 chr2: 164,951,038-165,017,228 , GRCh37.p13 chr2: 165,807,548-165,873,738 SLC38A11
    nsv6345445copy number variation1nstd223human GRCh38 chr2: 164,910,564-164,911,155 , GRCh37.p13 chr2: 165,767,074-165,767,665 SLC38A11
    nsv6342296copy number variation1nstd223human GRCh38 chr2: 164,925,035-164,931,098 , GRCh37.p13 chr2: 165,781,545-165,787,608 SLC38A11
    nsv6342285copy number variation1nstd223human GRCh38 chr2: 164,932,901-164,933,800 , GRCh37.p13 chr2: 165,789,411-165,790,310 SLC38A11
    nsv6336406copy number variation1nstd223human GRCh38 chr2: 164,899,001-164,899,900 , GRCh37.p13 chr2: 165,755,511-165,756,410 SLC38A11
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 EIF3EP3, FAP, 158 more genes
    nsv6313838copy number variation1nstd102humanPathogenic GRCh37 chr2: 165,428,510-166,888,012 , GRCh38.p12 chr2: 164,572,000-166,031,502 RNA5SP111, TTC21B-AS1, 16 more genes
    nsv6313780copy number variation1nstd102humanPathogenic GRCh37 chr2: 161,551,326-167,762,790 , GRCh38.p12 chr2: 160,694,815-166,906,280 SCN9A, FIGN, 60 more genes
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