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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099225copy number variation1nstd231human GRCh38.p12 chr1: 111,381,594-114,553,029 , GRCh37 chr1: 111,924,216-115,095,650 ADORA3, RHOC, 74 more genes
    nsv7095696copy number variation1nstd102humanPathogenic GRCh37 chr1: 112,318,699-115,576,848 , GRCh38.p12 chr1: 111,776,077-115,034,227 AKR7A2P1, PTPN22, 69 more genes
    nsv7095695copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,145,905-114,454,813 , GRCh38.p12 chr1: 110,603,283-113,912,191 LOC107985189, RNU6-792P, 83 more genes
    nsv6640064copy number variation1nstd229human GRCh38 chr1: 111,991,070-111,995,098 , GRCh37.p13 chr1: 112,533,692-112,537,720 LINC01750
    nsv6640058copy number variation1nstd229human GRCh38 chr1: 111,772,801-112,097,300 , GRCh37.p13 chr1: 112,315,423-112,639,922 LOC105378906, LINC01750, 3 more genes
    nsv6549317inversion1nstd223human GRCh38 chr1: 111,078,274-116,976,218 , GRCh37.p13 chr1: 111,620,896-117,518,840 RNU6-792P, TXNP3, 141 more genes
    nsv6313675copy number variation1nstd102humanPathogenic GRCh37 chr1: 95,046,805-114,714,931 , GRCh38.p12 chr1: 94,581,249-114,172,309 LINC01307, FTLP17, 320 more genes
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6299084copy number variation1nstd186human GRCh37 chr1: 112,230,457-115,692,621 , GRCh38.p12 chr1: 111,687,835-115,150,000 , WNT2B, 77 more genes
    nsv6133547copy number variation1nstd213human GRCh37 chr1: 112,480,000-113,000,001 , GRCh38.p12 chr1: 111,937,378-112,457,379 KCND3, CTTNBP2NL, 4 more genes
    nsv6133494copy number variation1nstd213human GRCh37 chr1: 112,060,000-112,550,001 , GRCh38.p12 chr1: 111,517,378-112,007,379 RAP1A, KCND3-IT1, 13 more genes
    nsv5429360copy number variation1nstd206human GRCh38 chr1: 111,687,835-115,150,000 , GRCh37.p13 chr1: 112,230,457-115,692,621 , ST7L, 77 more genes
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv3901806copy number variation1nstd102humanPathogenic NCBI36 chr1: 105,812,437-112,534,771 , GRCh38 chr1: 105,468,292-112,190,626 , GRCh37 chr1: 106,010,914-112,733,248 LOC126987, VAV3-AS1, 151 more genes
    nsv3898188copy number variation1nstd102humanPathogenic NCBI36 chr1: 110,100,775-118,994,350 , GRCh38 chr1: 109,756,630-118,650,204 , GRCh37 chr1: 110,299,252-119,192,827 AP4B1-AS1, HNRNPA1P43, 198 more genes
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